共 50 条
- [21] TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disabilityGENETICS IN MEDICINE, 2022, 24 (04) : 894 - 904Radenkovic, Silvia论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Katholieke Univ Leuven, Lab Hepatol, Dept Chron Dis & Metab, Leuven, Belgium VIB KU Leuven, Ctr Canc Biol, Metabol Expertise Ctr, Leuven, Belgium Katholieke Univ Leuven, Dept Oncol, Metabol Expertise Ctr, Leuven, Belgium Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USAMartinelli, Diego论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Res Hosp, Dept Pediat Specialties, Div Metab, Rome, Italy Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USAZhang, Yuebo论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USAPreston, Graeme J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USAMaiorana, Arianna论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Res Hosp, Dept Pediat Specialties, Div Metab, Rome, Italy Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USATerracciano, Alessandra论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Res Hosp, Dept Pediat Specialties, Div Metab, Rome, Italy Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USADentici, Maria Lisa论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Children Hosp IRCCS, Med Genet Unit, Rome, Italy Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USAPisaneschi, Elisa论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Children Hosp IRCCS, Lab Med Genet, Translat Cytogenom Res Unit, Rome, Italy Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USANovelli, Antonio论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Children Hosp IRCCS, Lab Med Genet, Translat Cytogenom Res Unit, Rome, Italy Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USARanatunga, Wasantha论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USALigezka, Anna N.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USAGhesquiere, Bart论文数: 0 引用数: 0 h-index: 0机构: VIB KU Leuven, Ctr Canc Biol, Metabol Expertise Ctr, Leuven, Belgium Katholieke Univ Leuven, Dept Oncol, Metabol Expertise Ctr, Leuven, Belgium Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USADeyle, David R.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USAKozicz, Tamas论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USAPinto e Vairo, Filippo论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USAWitters, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Metab Ctr, Leuven, Belgium Katholieke Univ Leuven, Dept Dev & Regenerat, Fac Med, Leuven, Belgium Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USAMorava, Eva论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Univ Hosp Leuven, Metab Ctr, Leuven, Belgium Univ Pecs, Med Sch, Dept Med Genet, Pecs, Hungary Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA
- [22] Interstitial Xp22.31 duplication detected by array CGH in a newborn with congenital heart defect and dysmorphic featuresCYTOGENETIC AND GENOME RESEARCH, 2008, 121 (01)Li, F.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Mckusick Nathans Inst Genet Med, Baltimore, MD USA Johns Hopkins Univ, Mckusick Nathans Inst Genet Med, Baltimore, MD USAPalmquist, M.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Mckusick Nathans Inst Genet Med, Baltimore, MD USA Johns Hopkins Univ, Mckusick Nathans Inst Genet Med, Baltimore, MD USAMorsey, S. A.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Kennedy Krieger Inst, Cytogenet Lab, Baltimore, MD USA Johns Hopkins Univ, Mckusick Nathans Inst Genet Med, Baltimore, MD USABiscoe, J.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Kennedy Krieger Inst, Cytogenet Lab, Baltimore, MD USA Johns Hopkins Univ, Mckusick Nathans Inst Genet Med, Baltimore, MD USASquibb, E.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Kennedy Krieger Inst, Cytogenet Lab, Baltimore, MD USA Johns Hopkins Univ, Mckusick Nathans Inst Genet Med, Baltimore, MD USAChinsky, J.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Mckusick Nathans Inst Genet Med, Baltimore, MD USA Johns Hopkins Univ, Mckusick Nathans Inst Genet Med, Baltimore, MD USABatista, D. A. S.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Kennedy Krieger Inst, Cytogenet Lab, Baltimore, MD USA Johns Hopkins Univ, Dept Pathol, Baltimore, MD USA Johns Hopkins Univ, Mckusick Nathans Inst Genet Med, Baltimore, MD USA
- [23] Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?CLINICAL GENETICS, 2013, 83 (01) : 53 - 65Shoukier, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyKlein, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyAuber, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany MVZ GenteQ, Zentrum Humangenet, Hamburg, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyWickert, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanySchroeder, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyZoll, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyBurfeind, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyBartels, I.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyAlsat, E. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyLingen, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyGrzmil, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany Jagiellonian Univ, Dept Genet & Evolut, Krakow, Poland Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanySchulze, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyKeyser, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyWeise, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyBorchers, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyHobbiebrunken, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyRoebl, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyGaertner, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyBrockmann, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, GermanyZirn, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Gottingen, Dept Paediat & Paediat Neurol, D-37073 Gottingen, Germany Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany
- [24] Subtelomeric screening in Serbian children with dysmorphic features and unexplained developmental delay/intellectual disabilitiesTURKISH JOURNAL OF PEDIATRICS, 2015, 57 (02) : 154 - 160论文数: 引用数: h-index:机构:Cuturilo, Goran论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Univ Childrens Hosp, Belgrade, Serbia Univ Belgrade, Fac Med, Inst Human Genet, Belgrade, SerbiaMaksimovic, Nela论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Inst Human Genet, Belgrade, Serbia Univ Belgrade, Fac Med, Inst Human Genet, Belgrade, SerbiaDimitrijevic, Nikola论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Univ Childrens Hosp, Belgrade, Serbia Univ Belgrade, Fac Med, Inst Human Genet, Belgrade, SerbiaMitic, Vesna论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Univ Childrens Hosp, Belgrade, Serbia Univ Belgrade, Fac Med, Inst Human Genet, Belgrade, SerbiaJekic, Biljana论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Inst Human Genet, Belgrade, Serbia Univ Belgrade, Fac Med, Inst Human Genet, Belgrade, SerbiaLukovic, Ljiljana论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Inst Human Genet, Belgrade, Serbia Univ Belgrade, Fac Med, Inst Human Genet, Belgrade, SerbiaBunjevacki, Vera论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Inst Human Genet, Belgrade, Serbia Univ Belgrade, Fac Med, Inst Human Genet, Belgrade, SerbiaVarljen, Tatjana论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Inst Med Legale, Belgrade, Serbia Univ Belgrade, Fac Med, Inst Human Genet, Belgrade, SerbiaDobricic, Valerija论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Inst Neurol CCS, Belgrade, Serbia Univ Belgrade, Fac Med, Inst Human Genet, Belgrade, SerbiaJovanovic, Ida论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Univ Childrens Hosp, Belgrade, Serbia Univ Belgrade, Fac Med, Inst Human Genet, Belgrade, SerbiaKostic, Vladimir论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Inst Neurol CCS, Belgrade, Serbia Univ Belgrade, Fac Med, Inst Human Genet, Belgrade, SerbiaNovakovic, Ivana论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Fac Med, Inst Human Genet, Belgrade, Serbia Univ Belgrade, Fac Med, Inst Human Genet, Belgrade, Serbia
- [25] Additive Diagnostic Yield of Homozygosity Regions Identified During Chromosomal microarray Testing in Children with Developmental Delay, Dysmorphic Features or Congenital AnomaliesBiochemical Genetics, 2020, 58 : 74 - 101Mohamed A. M. Ali论文数: 0 引用数: 0 h-index: 0机构: Ain Shams University,Department of Biochemistry, Faculty of ScienceAbdelrahman M. Hassan论文数: 0 引用数: 0 h-index: 0机构: Ain Shams University,Department of Biochemistry, Faculty of ScienceMosaab A. Saafan论文数: 0 引用数: 0 h-index: 0机构: Ain Shams University,Department of Biochemistry, Faculty of ScienceAdel A. Abdelmagid论文数: 0 引用数: 0 h-index: 0机构: Ain Shams University,Department of Biochemistry, Faculty of Science
- [26] A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disabilityGENE, 2013, 521 (01) : 82 - 86Rodriguez-Revenga, Laia论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Biochem & Mol Genet Dept, C Villarroel 170, E-08036 Barcelona, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, C Villarroel 170, E-08036 Barcelona, SpainVallespin, Elena论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz IdiPaz Madrid, Inst Genet Med & Mol INGEMM, Madrid, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, C Villarroel 170, E-08036 Barcelona, SpainMadrigal, Irene论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Biochem & Mol Genet Dept, C Villarroel 170, E-08036 Barcelona, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, C Villarroel 170, E-08036 Barcelona, SpainPalomares, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz IdiPaz Madrid, Inst Genet Med & Mol INGEMM, Madrid, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, C Villarroel 170, E-08036 Barcelona, Spain论文数: 引用数: h-index:机构:Garcia-Minaur, Sixto论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz IdiPaz Madrid, Inst Genet Med & Mol INGEMM, Madrid, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, C Villarroel 170, E-08036 Barcelona, SpainSantos, Fernando论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz IdiPaz Madrid, Inst Genet Med & Mol INGEMM, Madrid, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, C Villarroel 170, E-08036 Barcelona, SpainAngeles Mori, M.论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz IdiPaz Madrid, Inst Genet Med & Mol INGEMM, Madrid, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, C Villarroel 170, E-08036 Barcelona, SpainLapunzina, Pablo论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz IdiPaz Madrid, Inst Genet Med & Mol INGEMM, Madrid, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, C Villarroel 170, E-08036 Barcelona, SpainMila, Montserrat论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Biochem & Mol Genet Dept, C Villarroel 170, E-08036 Barcelona, Spain IDIBAPS, Barcelona, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, C Villarroel 170, E-08036 Barcelona, SpainNevado, Julian论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ La Paz IdiPaz Madrid, Inst Genet Med & Mol INGEMM, Madrid, Spain Hosp Clin Barcelona, Biochem & Mol Genet Dept, C Villarroel 170, E-08036 Barcelona, Spain
- [27] Additive diagnostic yield of homozygosity regions identified during chromosomal microarray testing in children with developmental delay, dysmorphic features or congenital anomaliesEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 672 - 672论文数: 引用数: h-index:机构:Madian, Abdelrahman论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Cairo, Egypt Ain Shams Univ, Dept Biochem, Cairo, Egypt
- [28] Additive Diagnostic Yield of Homozygosity Regions Identified During Chromosomal microarray Testing in Children with Developmental Delay, Dysmorphic Features or Congenital AnomaliesBIOCHEMICAL GENETICS, 2020, 58 (01) : 74 - 101Ali, Mohamed A. M.论文数: 0 引用数: 0 h-index: 0机构: Ain Shams Univ, Fac Sci, Dept Biochem, Cairo 11566, Egypt Ain Shams Univ, Fac Sci, Dept Biochem, Cairo 11566, EgyptHassan, Abdelrahman M.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Human Cytogenet Dept, Cairo, Egypt Ain Shams Univ, Fac Sci, Dept Biochem, Cairo 11566, EgyptSaafan, Mosaab A.论文数: 0 引用数: 0 h-index: 0机构: Al Borg Med Labs, Cytogenet Unit, Jeddah, Saudi Arabia Ain Shams Univ, Fac Sci, Dept Biochem, Cairo 11566, EgyptAbdelmagid, Adel A.论文数: 0 引用数: 0 h-index: 0机构: Al Borg Med Labs, Cytogenet Unit, Jeddah, Saudi Arabia Ain Shams Univ, Fac Sci, Dept Biochem, Cairo 11566, Egypt
- [29] De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic FeaturesAMERICAN JOURNAL OF HUMAN GENETICS, 2018, 103 (01) : 154 - 162Tokita, Mari J.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAChen, Chun-An论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Macnamara, Ellen论文数: 0 引用数: 0 h-index: 0机构: NIH, Undiagnosed Dis Program, Bldg 10, Bethesda, MD 20892 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USARosenfeld, Jill A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAHanchard, Neil论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USALewis, Andrea M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USABrown, Chester W.论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Hlth Sci Ctr, Memphis, TN 38163 USA Le Bonheur Childrens Hosp, Memphis, TN 38103 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAMarom, Ronit论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAShao, Yunru论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USANovacic, Danica论文数: 0 引用数: 0 h-index: 0机构: NIH, Undiagnosed Dis Program, Bldg 10, Bethesda, MD 20892 USA NHGRI, Off Clin Director, Bethesda, MD 20892 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAWolfe, Lynne论文数: 0 引用数: 0 h-index: 0机构: NIH, Undiagnosed Dis Program, Bldg 10, Bethesda, MD 20892 USA NHGRI, Off Clin Director, Bethesda, MD 20892 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAWahl, Colleen论文数: 0 引用数: 0 h-index: 0机构: NIH, Undiagnosed Dis Program, Bldg 10, Bethesda, MD 20892 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USATifft, Cynthia J.论文数: 0 引用数: 0 h-index: 0机构: NIH, Undiagnosed Dis Program, Bldg 10, Bethesda, MD 20892 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAToro, Camilo论文数: 0 引用数: 0 h-index: 0机构: NIH, Undiagnosed Dis Program, Bldg 10, Bethesda, MD 20892 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USABernstein, Jonathan A.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Stanford, CA 94305 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAHale, Caitlin L.论文数: 0 引用数: 0 h-index: 0机构: Lucile Packard Childrens Hosp Stanford, Stanford, CA 94305 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USASilver, Julia论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Prenatal Diagnost Ctr, San Francisco, CA 94158 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAHudgins, Louanne论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Stanford, CA 94305 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAAnanth, Amitha论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Birmingham, AL 35294 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAHanson-Kahn, Andrea论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Stanford, CA 94305 USA Lucile Packard Childrens Hosp Stanford, Stanford, CA 94305 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAShuster, Shirley论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Mt Sinai Hosp, Dept Obstet & Gynecol, Prenatal Diag & Med Genet Program, Toronto, ON M5G 1Z5, Canada Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAMagoulas, Pilar L.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAPatel, Vipulkumar N.论文数: 0 引用数: 0 h-index: 0机构: Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAZhu, Wenmiao论文数: 0 引用数: 0 h-index: 0机构: Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAChen, Stella M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAJiang, Yanjun论文数: 0 引用数: 0 h-index: 0机构: Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USALiu, Pengfei论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAEng, Christine M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USABatkovskyte, Dominyka论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAdi Ronza, Alberto论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USASardiello, Marco论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USALee, Brendan H.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USASchaaf, Christian P.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Univ Hosp Cologne, Inst Human Genet, D-50931 Cologne, Germany Univ Cologne, Ctr Mol Med Cologne, D-50931 Cologne, Germany Univ Hosp Cologne, Ctr Rare Dis, D-50931 Cologne, Germany Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAYang, Yaping论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USAWang, Xia论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA Baylor Genet, Houston, TX 77021 USA Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA
- [30] Biallelic HMGXB4 loss-of-function variant causes intellectual disability, developmental delay, and dysmorphic featuresHELIYON, 2024, 10 (15)Al Mutairi, Fuad论文数: 0 引用数: 0 h-index: 0机构: Minist Natl Guard Hlth Affairs MNGHA, King Abdullah Specialized Children Hosp, Genet & Precis Med Dept, King Abdulaziz Med City, Riyadh 11426, Saudi Arabia Minist Natl Guard Hlth Affairs MNG HA, King Saud Bin Abdulaziz Univ Hlth Sci KSAU HS, King Abdullah Int Med Res Ctr KAIMRC, Med Genom Res Dept, Riyadh 11481, Saudi Arabia Minist Natl Guard Hlth Affairs MNGHA, King Abdullah Specialized Children Hosp, Genet & Precis Med Dept, King Abdulaziz Med City, Riyadh 11426, Saudi ArabiaJoueidi, Faisal论文数: 0 引用数: 0 h-index: 0机构: Al Faisal Univ, Coll Med, Riyadh, Saudi Arabia Minist Natl Guard Hlth Affairs MNGHA, King Abdullah Specialized Children Hosp, Genet & Precis Med Dept, King Abdulaziz Med City, Riyadh 11426, Saudi ArabiaAlshalan, Maha论文数: 0 引用数: 0 h-index: 0机构: Minist Natl Guard Hlth Affairs MNGHA, King Abdullah Specialized Children Hosp, Genet & Precis Med Dept, King Abdulaziz Med City, Riyadh 11426, Saudi Arabia Minist Natl Guard Hlth Affairs MNGHA, King Abdullah Specialized Children Hosp, Genet & Precis Med Dept, King Abdulaziz Med City, Riyadh 11426, Saudi ArabiaAloyouni, Essra论文数: 0 引用数: 0 h-index: 0机构: Minist Natl Guard Hlth Affairs MNG HA, King Saud Bin Abdulaziz Univ Hlth Sci KSAU HS, King Abdullah Int Med Res Ctr KAIMRC, Med Genom Res Dept, Riyadh 11481, Saudi Arabia Minist Natl Guard Hlth Affairs MNGHA, King Abdullah Specialized Children Hosp, Genet & Precis Med Dept, King Abdulaziz Med City, Riyadh 11426, Saudi ArabiaBallow, Mariam论文数: 0 引用数: 0 h-index: 0机构: Minist Natl Guard Hlth Affairs MNG HA, King Saud Bin Abdulaziz Univ Hlth Sci KSAU HS, King Abdullah Int Med Res Ctr KAIMRC, Med Genom Res Dept, Riyadh 11481, Saudi Arabia Minist Natl Guard Hlth Affairs MNGHA, King Abdullah Specialized Children Hosp, Genet & Precis Med Dept, King Abdulaziz Med City, Riyadh 11426, Saudi ArabiaAldrees, Mohammed论文数: 0 引用数: 0 h-index: 0机构: Minist Natl Guard Hlth Affairs MNG HA, King Saud Bin Abdulaziz Univ Hlth Sci KSAU HS, King Abdullah Int Med Res Ctr KAIMRC, Med Genom Res Dept, Riyadh 11481, Saudi Arabia Minist Natl Guard Hlth Affairs MNGHA, King Abdullah Specialized Children Hosp, Genet & Precis Med Dept, King Abdulaziz Med City, Riyadh 11426, Saudi ArabiaAl Abdulrahman, Abdulkareem论文数: 0 引用数: 0 h-index: 0机构: Minist Natl Guard Hlth Affairs MNG HA, King Saud Bin Abdulaziz Univ Hlth Sci KSAU HS, King Abdullah Int Med Res Ctr KAIMRC, Med Genom Res Dept, Riyadh 11481, Saudi Arabia Minist Natl Guard Hlth Affairs MNGHA, King Abdullah Specialized Children Hosp, Genet & Precis Med Dept, King Abdulaziz Med City, Riyadh 11426, Saudi ArabiaAl Tuwaijri, Abeer论文数: 0 引用数: 0 h-index: 0机构: Minist Natl Guard Hlth Affairs MNG HA, King Saud Bin Abdulaziz Univ Hlth Sci KSAU HS, King Abdullah Int Med Res Ctr KAIMRC, Med Genom Res Dept, Riyadh 11481, Saudi Arabia King Saud Bin Abdulaziz Univ Hlth Sci KSAU HS, Coll Appl Med Sci, Clin Lab Sci Dept, Riyadh 11426, Saudi Arabia Minist Natl Guard Hlth Affairs MNGHA, King Abdullah Specialized Children Hosp, Genet & Precis Med Dept, King Abdulaziz Med City, Riyadh 11426, Saudi ArabiaAbbas, Safdar论文数: 0 引用数: 0 h-index: 0机构: Dartmouth Coll, Dept Biol Sci, Hanover, NH USA Minist Natl Guard Hlth Affairs MNGHA, King Abdullah Specialized Children Hosp, Genet & Precis Med Dept, King Abdulaziz Med City, Riyadh 11426, Saudi ArabiaUmair, Muhammad论文数: 0 引用数: 0 h-index: 0机构: Minist Natl Guard Hlth Affairs MNG HA, King Saud Bin Abdulaziz Univ Hlth Sci KSAU HS, King Abdullah Int Med Res Ctr KAIMRC, Med Genom Res Dept, Riyadh 11481, Saudi Arabia Minist Natl Guard Hlth Affairs MNGHA, King Abdullah Specialized Children Hosp, Genet & Precis Med Dept, King Abdulaziz Med City, Riyadh 11426, Saudi ArabiaAlfadhel, Majid论文数: 0 引用数: 0 h-index: 0机构: Minist Natl Guard Hlth Affairs MNGHA, King Abdullah Specialized Children Hosp, Genet & Precis Med Dept, King Abdulaziz Med City, Riyadh 11426, Saudi Arabia Minist Natl Guard Hlth Affairs MNG HA, King Saud Bin Abdulaziz Univ Hlth Sci KSAU HS, King Abdullah Int Med Res Ctr KAIMRC, Med Genom Res Dept, Riyadh 11481, Saudi Arabia Minist Natl Guard Hlth Affairs MNGHA, King Abdullah Specialized Children Hosp, Genet & Precis Med Dept, King Abdulaziz Med City, Riyadh 11426, Saudi Arabia