共 50 条
- [1] CLINCIAL UTILITY OF WHOLE EXOME SEQUENCING IN CLINICAL DIAGNOSES OF SYNDROMIC AND NON-SYNDROMIC IMMUNODEFICIENCY DISORDERS IN PEDIATRIC PATIENTS[J]. JOURNAL OF CLINICAL IMMUNOLOGY, 2016, 36 (03) : 250 - 250Valencia, Alexander论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp, Human Genet, Cincinnati, OH USA Cincinnati Childrens Hosp, Human Genet, Cincinnati, OH USAWang, Xinjian论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp, Human Genet, Cincinnati, OH USAWei, Chao论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp, Cincinnati, OH USA Cincinnati Childrens Hosp, Human Genet, Cincinnati, OH USAMathur, Abhinav论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp, Human Genet, Cincinnati, OH USADenton, James论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp, Human Genet, Cincinnati, OH USAIndugula, Subba论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp, Human Genet, Cincinnati, OH USAHusami, Ammar论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp, Human Genet, Cincinnati, OH USABrown, Jenice论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp, Human Genet, Cincinnati, OH USAZhang, Kejian论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp, Human Genet, Cincinnati, OH USA Cincinnati Childrens Hosp, Human Genet, Cincinnati, OH USA
- [2] Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss[J]. PLOS ONE, 2018, 13 (01):Likar, Tina论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, SloveniaHasanhodzic, Mensuda论文数: 0 引用数: 0 h-index: 0机构: Univ Clin Ctr Tuzla, Dept Paediat, Policlin Med Genet Genet Counseling Out Patient Ca, Tuzla, Bosnia & Herceg Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, SloveniaTeran, Natasa论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, SloveniaMaver, Ales论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, SloveniaPeterlin, Borut论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, SloveniaWritzl, Karin论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia
- [3] Whole Exome Sequencing of Non-Syndromic Hearing Loss Patients[J]. IRANIAN JOURNAL OF PUBLIC HEALTH, 2024, 53 (02) : 453 - 461Naddafnia, Hossein论文数: 0 引用数: 0 h-index: 0机构: Islamic Azad Univ, Dept Biol, Sci & Res Branch, Tehran, Iran Islamic Azad Univ, Dept Biol, Sci & Res Branch, Tehran, IranNoormohammadi, Zahra论文数: 0 引用数: 0 h-index: 0机构: Islamic Azad Univ, Dept Biol, Sci & Res Branch, Tehran, Iran Islamic Azad Univ, Dept Biol, Sci & Res Branch, Tehran, IranIrani, Shiva论文数: 0 引用数: 0 h-index: 0机构: Islamic Azad Univ, Dept Biol, Sci & Res Branch, Tehran, Iran Islamic Azad Univ, Dept Biol, Sci & Res Branch, Tehran, IranSalahshoorifar, Iman论文数: 0 引用数: 0 h-index: 0机构: Islamic Azad Univ, Dept Biol, Sci & Res Branch, Tehran, Iran Islamic Azad Univ, Dept Biol, Sci & Res Branch, Tehran, Iran
- [4] Targeted exome sequencing analysis in Turkish non-syndromic craniosynostosis patients[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 101 - 102论文数: 引用数: h-index:机构:Nur, B.论文数: 0 引用数: 0 h-index: 0机构: Akdeniz Univ, Antalya, Turkey Akdeniz Univ, Antalya, Turkey论文数: 引用数: h-index:机构:Alper, O. M.论文数: 0 引用数: 0 h-index: 0机构: Akdeniz Univ, Antalya, Turkey Akdeniz Univ, Antalya, Turkey
- [5] Interest of exome sequencing in non-syndromic specific learning disorders: a French pilot study[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 195 - 195Viora-Dupont, Eleonore论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Ctr Genet, Dijon, France Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France Univ Bourgogne, UMR1231 GAD Genet Anomalies Dev, FHU TRANSLAD, INSERM, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceDelanne, Julian论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Ctr Genet, Dijon, France Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France Univ Bourgogne, UMR1231 GAD Genet Anomalies Dev, FHU TRANSLAD, INSERM, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceGarde, Aurore论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Ctr Genet, Dijon, France Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France Univ Bourgogne, UMR1231 GAD Genet Anomalies Dev, FHU TRANSLAD, INSERM, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceNambot, Sophie论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Ctr Genet, Dijon, France Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France Univ Bourgogne, UMR1231 GAD Genet Anomalies Dev, FHU TRANSLAD, INSERM, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceColin, Estelle论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Ctr Genet, Dijon, France Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France Univ Bourgogne, UMR1231 GAD Genet Anomalies Dev, FHU TRANSLAD, INSERM, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceBournez, Marie论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Ctr Genet, Dijon, France Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceFauconnier-Fatus, Clemence论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Ctr Genet, Dijon, France Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceBernard, Celine论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Ctr Genet, Dijon, France Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceEspitalier, Aurelie论文数: 0 引用数: 0 h-index: 0机构: Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceBinquet, Christine论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, CIC 1432 Module Epidemiol Clin, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceBouctot, Marion论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, CIC 1432 Module Epidemiol Clin, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceHumbert, Marie-Laure论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, CIC 1432 Module Epidemiol Clin, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceBriffaut, Anne-Sophie论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, CIC 1432 Module Epidemiol Clin, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceDarmency, Veronique论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Ctr Referent Troubles Langage & Apprentissages, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FrancePlumet, Patricia论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, UMR1231 GAD Genet Anomalies Dev, FHU TRANSLAD, INSERM, Dijon, France CHU Dijon Bourgogne, Ctr Referent Troubles Langage & Apprentissages, Dijon, France CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Malad Rares, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceRelin, Noemie论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Ctr Genet, Dijon, France Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France Univ Bourgogne, UMR1231 GAD Genet Anomalies Dev, FHU TRANSLAD, INSERM, Dijon, France CHU Dijon Bourgogne, Ctr Referent Troubles Langage & Apprentissages, Dijon, France CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Malad Rares, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceCallier, Patrick论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, UMR1231 GAD Genet Anomalies Dev, FHU TRANSLAD, INSERM, Dijon, France CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Malad Rares, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceMosca-Boidron, Anne-Laure论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, UMR1231 GAD Genet Anomalies Dev, FHU TRANSLAD, INSERM, Dijon, France CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Malad Rares, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceMarle, Nathalie论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, UMR1231 GAD Genet Anomalies Dev, FHU TRANSLAD, INSERM, Dijon, France CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Malad Rares, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceThem, Frederic Tran Mau论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, UMR1231 GAD Genet Anomalies Dev, FHU TRANSLAD, INSERM, Dijon, France CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Malad Rares, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceDenomme-Pichon, Anne-Sophie论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, UMR1231 GAD Genet Anomalies Dev, FHU TRANSLAD, INSERM, Dijon, France CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Malad Rares, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceSafraou, Hana论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, UMR1231 GAD Genet Anomalies Dev, FHU TRANSLAD, INSERM, Dijon, France CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Malad Rares, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceVitobello, Antonio论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, UMR1231 GAD Genet Anomalies Dev, FHU TRANSLAD, INSERM, Dijon, France CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Malad Rares, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceBruel, Ange-Line论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, UMR1231 GAD Genet Anomalies Dev, FHU TRANSLAD, INSERM, Dijon, France CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Malad Rares, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FrancePhilippe, Christophe论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, UMR1231 GAD Genet Anomalies Dev, FHU TRANSLAD, INSERM, Dijon, France CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Malad Rares, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceThauvin-Robinet, Christel论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Ctr Genet, Dijon, France Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France Univ Bourgogne, UMR1231 GAD Genet Anomalies Dev, FHU TRANSLAD, INSERM, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, FranceFaivre, Laurence论文数: 0 引用数: 0 h-index: 0机构: CHU Dijon Bourgogne, Ctr Genet, Dijon, France Ctr Reference Anomalies Dev & Syndromes Malformat, Dijon, France Univ Bourgogne, UMR1231 GAD Genet Anomalies Dev, FHU TRANSLAD, INSERM, Dijon, France CHU Dijon Bourgogne, Ctr Genet, Dijon, France
- [6] Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts[J]. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2023, 24 (14)Rodriguez-Solana, Patricia论文数: 0 引用数: 0 h-index: 0机构: Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, SpainArruti, Natalia论文数: 0 引用数: 0 h-index: 0机构: Paz Univ Hosp, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, Spain Paz Univ Hosp, European Reference Network Eye Dis ERN EYE, Madrid 28046, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, SpainNieves-Moreno, Maria论文数: 0 引用数: 0 h-index: 0机构: Paz Univ Hosp, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, Spain Paz Univ Hosp, European Reference Network Eye Dis ERN EYE, Madrid 28046, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, SpainMena, Rocio论文数: 0 引用数: 0 h-index: 0机构: Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, Spain Carlos II Hlth Inst ISCIII, Biomed Res Ctr Rare Dis Network CIBERER, Madrid 28029, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, SpainRodriguez-Jimenez, Carmen论文数: 0 引用数: 0 h-index: 0机构: Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, SpainGuerrero-Carretero, Marta论文数: 0 引用数: 0 h-index: 0机构: Paz Univ Hosp, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, SpainAcal, Juan Carlos论文数: 0 引用数: 0 h-index: 0机构: Paz Univ Hosp, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, SpainBlasco, Joana论文数: 0 引用数: 0 h-index: 0机构: Paz Univ Hosp, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, SpainPeralta, Jesus M.论文数: 0 引用数: 0 h-index: 0机构: Paz Univ Hosp, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, SpainDel Pozo, Angela论文数: 0 引用数: 0 h-index: 0机构: Carlos II Hlth Inst ISCIII, Biomed Res Ctr Rare Dis Network CIBERER, Madrid 28029, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Clin Bioinformat Sect, IdiPaz,CIBERER, Madrid 28046, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, SpainMontano, Victoria E. F.论文数: 0 引用数: 0 h-index: 0机构: Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, Spain Carlos II Hlth Inst ISCIII, Biomed Res Ctr Rare Dis Network CIBERER, Madrid 28029, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, SpainDe Dios-Blazquez, Lucia论文数: 0 引用数: 0 h-index: 0机构: Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Clin Bioinformat Sect, IdiPaz,CIBERER, Madrid 28046, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, SpainFernandez-Alcalde, Celia论文数: 0 引用数: 0 h-index: 0机构: Paz Univ Hosp, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, SpainGonzalez-Atienza, Carmen论文数: 0 引用数: 0 h-index: 0机构: Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, SpainSanchez-Cazorla, Eloisa论文数: 0 引用数: 0 h-index: 0机构: Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, SpainGomez-Cano, Maria de Los Angeles论文数: 0 引用数: 0 h-index: 0机构: Carlos II Hlth Inst ISCIII, Biomed Res Ctr Rare Dis Network CIBERER, Madrid 28029, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Clin Genet Sect, IdiPaz, Madrid 28046, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, SpainDelgado-Mora, Luna论文数: 0 引用数: 0 h-index: 0机构: Carlos II Hlth Inst ISCIII, Biomed Res Ctr Rare Dis Network CIBERER, Madrid 28029, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Clin Genet Sect, IdiPaz, Madrid 28046, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, SpainNoval, Susana论文数: 0 引用数: 0 h-index: 0机构: Paz Univ Hosp, Dept Pediat Ophthalmol, IdiPaz, Madrid 28046, Spain Paz Univ Hosp, European Reference Network Eye Dis ERN EYE, Madrid 28046, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, SpainVallespin, Elena论文数: 0 引用数: 0 h-index: 0机构: Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, Spain Paz Univ Hosp, European Reference Network Eye Dis ERN EYE, Madrid 28046, Spain Carlos II Hlth Inst ISCIII, Biomed Res Ctr Rare Dis Network CIBERER, Madrid 28029, Spain Paz Univ Hosp, Inst Med & Mol Genet INGEMM, Mol Ophthalmol Sect, IdiPaz, Madrid 28046, Spain
- [7] Genetics of syndromic and non-syndromic hereditary nail disorders[J]. CLINICAL GENETICS, 2017, 91 (06) : 813 - 823Bergqvist, C.论文数: 0 引用数: 0 h-index: 0机构: Amer Univ Beirut, Dept Dermatol, Beirut, Lebanon Amer Univ Beirut, Dept Dermatol, Beirut, LebanonRamia, P.论文数: 0 引用数: 0 h-index: 0机构: Amer Univ Beirut, Dept Internal Med, Beirut, Lebanon Amer Univ Beirut, Dept Dermatol, Beirut, LebanonAbbas, O.论文数: 0 引用数: 0 h-index: 0机构: Amer Univ Beirut, Dept Dermatol, Beirut, Lebanon Amer Univ Beirut, Dept Dermatol, Beirut, LebanonKurban, M.论文数: 0 引用数: 0 h-index: 0机构: Amer Univ Beirut, Dept Dermatol, Beirut, Lebanon Amer Univ Beirut, Dept Biochem & Mol Genet, Beirut, Lebanon Columbia Univ, Dept Dermatol, Med Ctr, New York, NY 10027 USA Amer Univ Beirut, Dept Dermatol, Beirut, Lebanon
- [8] Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders[J]. JOURNAL OF PEDIATRICS, 2024, 265Rezende, Raissa Carneiro论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, Brazil Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, Brazilde Andrade, Nathalia Liberatoscioli Menezes论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, Brazil Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, BrazilDantas, Naiara Castelo Branco论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, Brazil Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, BrazilCellin, Laurana de Polli论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, Brazil Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, BrazilKrepischi, Ana Cristina Victorino论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Inst Biosci, Human Genome & Stem Cell Res Ctr, Sao Paulo, SP, Brazil Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, Brazil论文数: 引用数: h-index:机构:Jorge, Alexander Augusto de Lima论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, Brazil Ave Dr Arnaldo 455,5 Andar,Sala 5340, BR-01246903 Sao Paulo, SP, Brazil Univ Sao Paulo, Hosp Clin Univ Sao Paulo, Hosp Clin, Unidade Endocrinol Genet,Lab Endocrinol Celular &, Sao Paulo, SP, Brazil
- [9] Clinical course and genetics of syndromic and non-syndromic craniosynostosis[J]. MEDIZINISCHE GENETIK, 2013, 25 (03) : 373 - 385Rachwalski, M.论文数: 0 引用数: 0 h-index: 0机构: Uniklin Koln, Inst Humangenet, D-50931 Cologne, Germany Uniklin Koln, Inst Humangenet, D-50931 Cologne, GermanyWollnik, B.论文数: 0 引用数: 0 h-index: 0机构: Uniklin Koln, Inst Humangenet, D-50931 Cologne, Germany Uniklin Koln, Inst Humangenet, D-50931 Cologne, GermanyKress, W.论文数: 0 引用数: 0 h-index: 0机构: Univ Wurzburg, Inst Humangenet, D-97070 Wurzburg, Germany Uniklin Koln, Inst Humangenet, D-50931 Cologne, Germany
- [10] Exome Sequencing-Based Identification of Mutations in Non-Syndromic Genes Among Individuals with Apparently Syndromic Features[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (11) : 2889 - 2894Nishi, Eriko论文数: 0 引用数: 0 h-index: 0机构: Nagano Childrens Hosp, Div Med Genet, Azumino, Japan Nagano Childrens Hosp, Life Sci Res Ctr, Azumino, Japan Shinshu Univ, Grad Sch Med, Dept Med Genet, Matsumoto, Nagano, Japan Nagano Childrens Hosp, Div Med Genet, Azumino, JapanMasuda, Koji论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Inst Mol & Cellular Biosci, Res Ctr Epigenet Dis, Tokyo, Japan Nagano Childrens Hosp, Div Med Genet, Azumino, JapanArakawa, Michiko论文数: 0 引用数: 0 h-index: 0机构: Nagano Childrens Hosp, Div Med Genet, Azumino, Japan Nagano Childrens Hosp, Div Med Genet, Azumino, JapanKawame, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Nagano Childrens Hosp, Div Med Genet, Azumino, Japan Tohoku Univ, Tohoku Med Megabank Org, Div Genom Med Support & Genet Counseling, Sendai, Miyagi, Japan Nagano Childrens Hosp, Div Med Genet, Azumino, JapanKosho, Tomoki论文数: 0 引用数: 0 h-index: 0机构: Nagano Childrens Hosp, Div Med Genet, Azumino, Japan Shinshu Univ, Grad Sch Med, Dept Med Genet, Matsumoto, Nagano, Japan Nagano Childrens Hosp, Div Med Genet, Azumino, JapanKitahara, Masashi论文数: 0 引用数: 0 h-index: 0机构: Chu Shin Matsumoto Hosp, Matsumoto Med Ctr, Dept Pediat, Matsumoto, Nagano, Japan Nagano Childrens Hosp, Div Med Genet, Azumino, JapanKubota, Noriko论文数: 0 引用数: 0 h-index: 0机构: Nagano Childrens Hosp, Life Sci Res Ctr, Azumino, Japan Nagano Childrens Hosp, Dept Lab Med, Azumino, Japan Nagano Childrens Hosp, Div Med Genet, Azumino, JapanHidaka, Eiko论文数: 0 引用数: 0 h-index: 0机构: Nagano Childrens Hosp, Life Sci Res Ctr, Azumino, Japan Nagano Childrens Hosp, Dept Lab Med, Azumino, Japan Nagano Childrens Hosp, Div Med Genet, Azumino, JapanKatoh, Yuki论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Inst Mol & Cellular Biosci, Res Ctr Epigenet Dis, Tokyo, Japan Nagano Childrens Hosp, Div Med Genet, Azumino, JapanShirahige, Katsuhiko论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Inst Mol & Cellular Biosci, Res Ctr Epigenet Dis, Tokyo, Japan Japan Sci & Technol Agcy, CREST, Kawaguchi, Japan Nagano Childrens Hosp, Div Med Genet, Azumino, JapanIzumi, Kosuke论文数: 0 引用数: 0 h-index: 0机构: Nagano Childrens Hosp, Div Med Genet, Azumino, Japan Univ Tokyo, Inst Mol & Cellular Biosci, Res Ctr Epigenet Dis, Tokyo, Japan Childrens Hosp Philadelphia, Div Human Genet, 3615 Civ Ctr Blvd, Philadelphia, PA 19104 USA Nagano Childrens Hosp, Div Med Genet, Azumino, Japan