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Benjamin Kamien

Showing results (21-30 of 37) with videos related to

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American Journal of Medical Genetics. Part A|July 21, 2020
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?Dong Li, Rebecca C Ahrens-Nicklas, Janice Baker, et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao|January 2, 2021
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)Simranpreet Kaur, Nicole J Van Bergen, Bruria Ben-Zeev, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 17, 2024
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencingMegan Ball, Sophie E Bouffler, Christopher B Barnett, et al.
NPJ Genomic Medicine|December 11, 2020
A flexible computational pipeline for research analyses of unsolved clinical exome casesTimo Lassmann, Richard W Francis, Alexia Weeks, et al.
Human Molecular Genetics|June 25, 2021
Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disordersEthiraj Ravindran, Ramona Jühlen, Carlos H Vieira-Vieira, et al.
Orphanet Journal of Rare Diseases|June 30, 2017
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxiaJessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
Revealing hidden genetic diagnoses in the ocular anterior segment disordersAlan Ma, Saira Yousoof, John R Grigg, et al.
Human Mutation|February 4, 2014
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndromeRoberta Piras, Francesca Chiappe, Ilaria La Torraca, et al.
Human Genetics|April 3, 2021
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndromeDong Li, Michael E March, Paola Fortugno, et al.
European Journal of Human Genetics : EJHG|August 15, 2022
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysisLisa J Ewans, Andre E Minoche, Deborah Schofield, et al.
Pageof 4

Showing results (21-30 of 37) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics. Part A|July 21, 2020
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?Dong Li, Rebecca C Ahrens-Nicklas, Janice Baker, et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao|January 2, 2021
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)Simranpreet Kaur, Nicole J Van Bergen, Bruria Ben-Zeev, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 17, 2024
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencingMegan Ball, Sophie E Bouffler, Christopher B Barnett, et al.
NPJ Genomic Medicine|December 11, 2020
A flexible computational pipeline for research analyses of unsolved clinical exome casesTimo Lassmann, Richard W Francis, Alexia Weeks, et al.
Human Molecular Genetics|June 25, 2021
Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disordersEthiraj Ravindran, Ramona Jühlen, Carlos H Vieira-Vieira, et al.
Orphanet Journal of Rare Diseases|June 30, 2017
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxiaJessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2020
Revealing hidden genetic diagnoses in the ocular anterior segment disordersAlan Ma, Saira Yousoof, John R Grigg, et al.
Human Mutation|February 4, 2014
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndromeRoberta Piras, Francesca Chiappe, Ilaria La Torraca, et al.
Human Genetics|April 3, 2021
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndromeDong Li, Michael E March, Paola Fortugno, et al.
European Journal of Human Genetics : EJHG|August 15, 2022
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysisLisa J Ewans, Andre E Minoche, Deborah Schofield, et al.
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