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- [1] The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlationsGENETICS IN MEDICINE, 2016, 18 (11) : 1143 - 1150Chen, Chun-An论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABosch, Danielle G. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Bartimeus, Inst Visually Impaired, Zeist, Netherlands Radboud Univ Nijmegen, Netherlands Radboud Inst Mol Life Sci, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Cognit Neurosci, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USACho, Megan T.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Baylor Coll Med, Dept 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, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAShinawi, Marwan论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Pediat, Div Genet & Genom Med, St Louis, MO 63110 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALewis, Richard Alan论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Ophthalmol, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMann, John论文数: 0 引用数: 0 h-index: 0机构: Kaiser Permanente Fresno Med Ctr, Genet, Clovis, CA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAJayakar, Parul论文数: 0 引用数: 0 h-index: 0机构: Nicklaus Childrens Hosp, Miami, FL USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAPayne, Katelyn论文数: 0 引用数: 0 h-index: 0机构: Riley Hosp Children, Indianapolis, IN USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAWalsh, Laurence论文数: 0 引用数: 0 h-index: 0机构: Riley Hosp Children, Indianapolis, IN USA Indiana Univ Sch Med, Dept Neurol, Indianapolis, IN 46202 USA Indiana Univ Sch Med, Dept Med & Mol Genet, Indianapolis, IN 46202 USA Indiana Univ Sch Med, Dept Pediat, Indianapolis, IN 46202 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMoss, Timothy论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin, Genom Med Inst, Cleveland, OH 44106 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USASchreiber, Allison论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin, Genom Med Inst, Cleveland, OH 44106 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USASchoonveld, Cheri论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota Hlth, Minneapolis, MN USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMonaghan, Kristin G.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAElmslie, Frances论文数: 0 引用数: 0 h-index: 0机构: St Georges Healthcare NHS Trust, South West Thames Reg Genet Serv, London, England Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USADouglas, Ganka论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABoonstra, F. Nienke论文数: 0 引用数: 0 h-index: 0机构: Bartimeus, Inst Visually Impaired, Zeist, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Cognit Neurosci, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMilian, Francisca论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USACremers, Frans P. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Netherlands Radboud Inst Mol Life Sci, Med Ctr, Nijmegen, Netherlands Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMcKnight, Dianalee论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USARichard, Gabriele论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAJuusola, Jane论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAKendall, Fran论文数: 0 引用数: 0 h-index: 0机构: VMP Genet LLC, Atlanta, GA USA Univ Georgia, Athens, GA 30602 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USARamsey, Keri论文数: 0 引用数: 0 h-index: 0机构: Translat Genom Res Inst, Ctr Rare Childhood Disorders, Phoenix, AZ USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAAnyane-Yeboa, Kwame论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pediat, Med Ctr, New York, NY 10027 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAMalkin, Elfrida论文数: 0 引用数: 0 h-index: 0机构: Nyack Hosp, Nyack, NY USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAChung, Wendy K.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pediat, Med Ctr, New York, NY 10027 USA Columbia Univ, Dept Med, Med Ctr, New York, NY USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USANiyazov, Dmitriy论文数: 0 引用数: 0 h-index: 0机构: Ochsner Clin Fdn, Dept Pediat, Div Med Genet, New Orleans, LA USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAPascual, Juan M.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dept Neurol & Neurotherapeut, Dallas, TX 75390 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAWalkiewicz, Magdalena论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAVeluchamy, Vivekanand论文数: 0 引用数: 0 h-index: 0机构: Akron Childrens Hosp, Div Pediat Neurol, Akron, OH USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALi, Chumei论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Med Ctr, Hamilton, ON, Canada Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAHisama, Fuki M.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAde Vries, Bert B. A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Cognit Neurosci, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USASchaaf, Christian论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
- [2] Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlationsAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (06) : 1426 - 1437Rech, Megan E.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USAMcCarthy, John M.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USAChen, Chun-An论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USAEdmond, Jane C.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Austin, Dell Med Sch, Dept Ophthalmol, Austin, TX 78712 USA Texas Childrens Hosp, Div Ophthalmol, Houston, TX 77030 USA Baylor Coll Med, Dept Ophthalmol, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USAShah, Veeral S.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Div Ophthalmol, Houston, TX 77030 USA Baylor Coll Med, Dept Ophthalmol, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USABosch, Danielle G. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Genet, Utrecht, Netherlands Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USABerry, Gerard T.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Div Genet & Genom, Boston, MA 02115 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USAWilliams, Linford论文数: 0 引用数: 0 h-index: 0机构: UPMC, Childrens Hosp Pittsburgh, Pittsburgh, PA USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USAMadan-Khetarpal, Suneeta论文数: 0 引用数: 0 h-index: 0机构: UPMC, Childrens Hosp Pittsburgh, Pittsburgh, PA USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Shaw-Smith, Charles论文数: 0 引用数: 0 h-index: 0机构: Royal Devon & Exeter NHS Fdn Trust, Dept Clin Genet, Exeter, Devon, England Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USAKovar, Erin M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Sect Hematol & Oncol, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USALupo, Philip J.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Pediat, Sect Hematol & Oncol, Houston, TX 77030 USA Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USASchaaf, Christian P.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Heidelberg Univ, Inst Human Genet, INF 366, D-69120 Heidelberg, Germany Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA
- [3] Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations ( vol 32, pg 1086, 2024)EUROPEAN JOURNAL OF HUMAN GENETICS, 2024,Vanbelleghem, Eva论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium Univ Ghent, Dept Biomol Med, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumVan Damme, Tim论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium论文数: 引用数: h-index:机构:Symoens, Sofie论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium Univ Ghent, Dept Biomol Med, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumClaes, Kathleen论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium Univ Ghent, Dept Biomol Med, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium论文数: 引用数: h-index:机构:Meerschaut, Ilse论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Brussels, Dept Pediat Cardiol, Brussels, Belgium Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumVanommeslaeghe, Floris论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Nephrol, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumDelanghe, Sigurd E.论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Dept Nephrol, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgiumvan den Ende, Jenneke论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Antwerp Univ Hosp, Dept Med Genet, Antwerp, Belgium Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumBeyltjens, Tessi论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Antwerp Univ Hosp, Dept Med Genet, Antwerp, Belgium Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumScimone, Eleanor R.论文数: 0 引用数: 0 h-index: 0机构: MassGen Children, Dept Pediat, Genet Unit, Boston, MA USA Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumLindsay, Mark E.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Med, Cardiovasc Genet Program, Cardiol Div, Boston, MA USA Massachusetts Gen Hosp, Dept Pediat, Pediat Cardiol Div, Boston, MA USA Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumSchimmenti, Lisa A.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN USA Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumHinze, Alicia M.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Rheumatol, Rochester, MN USA Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumDunn, Emily论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Pediat, Div Med Genet, Stanford, CA USA Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumGomez-Ospina, Natalia论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Pediat, Div Med Genet, Stanford, CA USA Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumVandernoot, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Hop Univ Bruxelles, ULB Ctr Human Genet, Brussels, Belgium Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumDelguste, Thomas论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Hop Univ Bruxelles, ULB Ctr Human Genet, Brussels, Belgium Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumCoppens, Sandra论文数: 0 引用数: 0 h-index: 0机构: Univ Libre Bruxelles, Hop Univ Bruxelles, ULB Ctr Human Genet, Brussels, Belgium Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumCormier-Daire, Valerie论文数: 0 引用数: 0 h-index: 0机构: Paris Cite Univ, Necker Enfants Malad Hosp, Imagine Inst, Ctr Reference Constitut Bone Dis MOC, Paris, France Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumTartaglia, Marco论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, Mol Genet & Funct Genom, IRCCS, Rome, Italy Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumGaravelli, Livia论文数: 0 引用数: 0 h-index: 0机构: Azienda USL IRCCS Reggio Emilia, Med Genet Unit, Reggio Emilia, Italy Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumShieh, Joseph论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Inst Human Genet, Dept Pediat, San Francisco, CA USA Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumDemir, Senol论文数: 0 引用数: 0 h-index: 0机构: Marmara Univ, Sch Med, Dept Med Genet, Istanbul, Turkiye Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumArslan Ates, Esra论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ Cerrahpasa, Fac Med, Dept Med Genet, Istanbul, Turkiye Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumZenker, Martin论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Magdeburg, Inst Human Genet, Magdeburg, Germany Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumRohanizadegan, Mersedeh论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Med, Div Translat Med & Human Genet, Philadelphia, PA USA Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumRivera-Cruz, Greysha论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Div Reprod Endocrinol & Infertil, Sch Med, Stanford, CA USA Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumDouzgou, Sofia论文数: 0 引用数: 0 h-index: 0机构: Haukeland Hosp, Dept Med Genet, Bergen, Norway Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumSmith, Justin论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumSimkins, Jessica论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumClark, Don论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumKaratsinides, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumTaylor, Sandy论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumWhite, Ines论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumSchultz, Patti论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumWears, Kate论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumHolder, Levi论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumYoung, Kathy论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumLin, Angela E.论文数: 0 引用数: 0 h-index: 0机构: MassGen Children, Dept Pediat, Genet Unit, Boston, MA USA Ghent Univ Hosp, Ctr Med Genet, Ghent, BelgiumCallewaert, Bert论文数: 0 引用数: 0 h-index: 0机构: Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium Univ Ghent, Dept Biomol Med, Ghent, Belgium Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium
- [4] Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T > C (p.Tyr131His) variant and further expanding the BBSOAS phenotypeEUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (07)Starosta, Rodrigo Tzovenos论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Rio Grande do Sul, Grad Program Genet & Mol Biol, Porto Alegre, RS, Brazil Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Univ Fed Rio Grande do Sul, Grad Program Genet & Mol Biol, Porto Alegre, RS, BrazilTarnowski, Jessica论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Rochester, MN USA Univ Fed Rio Grande do Sul, Grad Program Genet & Mol Biol, Porto Alegre, RS, BrazilPinto 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, Ctr Individualized Med, Rochester, MN USA Univ Fed Rio Grande do Sul, Grad Program Genet & Mol Biol, Porto Alegre, RS, BrazilRaymond, Kimiyo论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Ctr Individualized Med, Rochester, MN USA Univ Fed Rio Grande do Sul, Grad Program Genet & Mol Biol, Porto Alegre, RS, BrazilPreston, Graeme论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Univ Fed Rio Grande do Sul, Grad Program Genet & Mol Biol, Porto Alegre, RS, BrazilMorava, Eva论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Clin Genom, Rochester, MN 55905 USA Mayo Clin, Ctr Individualized Med, Rochester, MN USA Univ Fed Rio Grande do Sul, Grad Program Genet & Mol Biol, Porto Alegre, RS, Brazil
- [5] The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis (vol 17, pg 189, 2019)GENETICS IN MEDICINE, 2020, 22 (03) : 669 - 669Weiss, Karin论文数: 0 引用数: 0 h-index: 0Lazar, Hayley P.论文数: 0 引用数: 0 h-index: 0Kurolap, Alina论文数: 0 引用数: 0 h-index: 0Martinez, Ariel F.论文数: 0 引用数: 0 h-index: 0Paperna, Tamar论文数: 0 引用数: 0 h-index: 0Cohen, Lior论文数: 0 引用数: 0 h-index: 0Smeland, Marie F.论文数: 0 引用数: 0 h-index: 0Whalen, Sandra论文数: 0 引用数: 0 h-index: 0Heide, Solveig论文数: 0 引用数: 0 h-index: 0Keren, Boris论文数: 0 引用数: 0 h-index: 0Terhal, Pauline论文数: 0 引用数: 0 h-index: 0Irving, Melita论文数: 0 引用数: 0 h-index: 0Takaku, Motoki论文数: 0 引用数: 0 h-index: 0Roberts, John D.论文数: 0 引用数: 0 h-index: 0Petrovich, Robert M.论文数: 0 引用数: 0 h-index: 0Vergano, Samantha A. Schrier论文数: 0 引用数: 0 h-index: 0Kenney, Amy论文数: 0 引用数: 0 h-index: 0Hove, Hanne论文数: 0 引用数: 0 h-index: 0DeChene, Elizabeth论文数: 0 引用数: 0 h-index: 0Quinonez, Shane C.论文数: 0 引用数: 0 h-index: 0Colin, Estelle论文数: 0 引用数: 0 h-index: 0Ziegler, Alban论文数: 0 引用数: 0 h-index: 0Rumple, Melissa论文数: 0 引用数: 0 h-index: 0Jain, Mahim论文数: 0 引用数: 0 h-index: 0Monteil, Danielle论文数: 0 引用数: 0 h-index: 0Roeder, Elizabeth R.论文数: 0 引用数: 0 h-index: 0Nugent, Kimberly论文数: 0 引用数: 0 h-index: 0van Haeringen, Arie论文数: 0 引用数: 0 h-index: 0Gambello, Michael论文数: 0 引用数: 0 h-index: 0Santani, Avni论文数: 0 引用数: 0 h-index: 0Medne, Livija论文数: 0 引用数: 0 h-index: 0Krock, Bryan论文数: 0 引用数: 0 h-index: 0Skraban, Cara M.论文数: 0 引用数: 0 h-index: 0Zackai, Elaine H.论文数: 0 引用数: 0 h-index: 0Dubbs, Holly A.论文数: 0 引用数: 0 h-index: 0Smol, Thomas论文数: 0 引用数: 0 h-index: 0Ghoumid, Jamal论文数: 0 引用数: 0 h-index: 0Parker, Michael J.论文数: 0 引用数: 0 h-index: 0Wright, Michael论文数: 0 引用数: 0 h-index: 0Turnpenny, Peter论文数: 0 引用数: 0 h-index: 0Clayton-Smith, Jill论文数: 0 引用数: 0 h-index: 0Metcalfe, Kay论文数: 0 引用数: 0 h-index: 0Kurumizaka, Hitoshi论文数: 0 引用数: 0 h-index: 0Gelb, Bruce D.论文数: 0 引用数: 0 h-index: 0Feldman, Hagit Baris论文数: 0 引用数: 0 h-index: 0Campeau, Philippe M.论文数: 0 引用数: 0 h-index: 0Muenke, Maximilian论文数: 0 引用数: 0 h-index: 0Wade, Paul A.论文数: 0 引用数: 0 h-index: 0Lachlan, Katherine论文数: 0 引用数: 0 h-index: 0