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American Journal of Medical Genetics. Part A
|
June 9, 2005
The adult phenotype in Costello syndrome
Susan M White, J M Graham, B Kerr, et al.
European Journal of Medical Genetics
|
June 14, 2021
Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder
Guy Helman, Lauren E Taylor, Marzena Walkiewicz, et al.
European Journal of Human Genetics : EJHG
|
August 24, 2017
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data
Zornitza Stark, Harriet Dashnow, Sebastian Lunke, et al.
American Journal of Medical Genetics. Part A
|
March 10, 2023
A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes
Sharmila Kiss, John Christodoulou, David R Thorburn, et al.
American Journal of Medical Genetics. Part A
|
March 11, 2015
Speech and language in a genotyped cohort of individuals with Kabuki syndrome
Angela T Morgan, Cristina Mei, Annette Da Costa, et al.
Journal of Paediatrics and Child Health
|
August 24, 2021
Paediatric genomic testing: Navigating genomic reports for the general paediatrician
Margit Shah, Arthavan Selvanathan, Gareth Baynam, et al.
American Journal of Human Genetics
|
June 4, 2019
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca<sup>2+</sup>-Activated K<sup>+</sup> Channel SK3 Cause Zimmermann-Laband Syndrome
Christiane K Bauer, Pauline E Schneeberger, Fanny Kortüm, et al.
Human Mutation
|
December 21, 2012
Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts
Nadia A Akawi, Fuat E Canpolat, Susan M White, et al.
American Journal of Medical Genetics. Part A
|
February 8, 2017
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9
Ashley P L Marsh, Patrick Yap, Tiong Tan, et al.
Journal of the American College of Cardiology
|
December 16, 2014
Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease
Gillian M Blue, Edwin P Kirk, Eleni Giannoulatou, et al.
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of 16
Search research articles
Search
Showing results (51-60 of 160) with videos related to
Sort By:
Page
of 16
American Journal of Medical Genetics. Part A
|
June 9, 2005
The adult phenotype in Costello syndrome
Susan M White, J M Graham, B Kerr, et al.
European Journal of Medical Genetics
|
June 14, 2021
Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder
Guy Helman, Lauren E Taylor, Marzena Walkiewicz, et al.
European Journal of Human Genetics : EJHG
|
August 24, 2017
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data
Zornitza Stark, Harriet Dashnow, Sebastian Lunke, et al.
American Journal of Medical Genetics. Part A
|
March 10, 2023
A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes
Sharmila Kiss, John Christodoulou, David R Thorburn, et al.
American Journal of Medical Genetics. Part A
|
March 11, 2015
Speech and language in a genotyped cohort of individuals with Kabuki syndrome
Angela T Morgan, Cristina Mei, Annette Da Costa, et al.
Journal of Paediatrics and Child Health
|
August 24, 2021
Paediatric genomic testing: Navigating genomic reports for the general paediatrician
Margit Shah, Arthavan Selvanathan, Gareth Baynam, et al.
American Journal of Human Genetics
|
June 4, 2019
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca<sup>2+</sup>-Activated K<sup>+</sup> Channel SK3 Cause Zimmermann-Laband Syndrome
Christiane K Bauer, Pauline E Schneeberger, Fanny Kortüm, et al.
Human Mutation
|
December 21, 2012
Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts
Nadia A Akawi, Fuat E Canpolat, Susan M White, et al.
American Journal of Medical Genetics. Part A
|
February 8, 2017
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9
Ashley P L Marsh, Patrick Yap, Tiong Tan, et al.
Journal of the American College of Cardiology
|
December 16, 2014
Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease
Gillian M Blue, Edwin P Kirk, Eleni Giannoulatou, et al.
Page
of 16