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European Journal of Human Genetics : EJHG
|
June 9, 2017
Genotype and phenotype spectrum of NRAS germline variants
Franziska Altmüller, Christina Lissewski, Debora Bertola, et al.
American Journal of Human Genetics
|
March 5, 2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
James T Bennett, Tiong Yang Tan, Diana Alcantara, et al.
JAMA Pediatrics
|
August 1, 2017
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, et al.
Journal of Inherited Metabolic Disease
|
January 18, 2023
MOGS-CDG: Quantitative analysis of the diagnostic Glc<sub>3</sub> Man tetrasaccharide and clinical spectrum of six new cases
Merel A Post, Isis de Wit, Fokje S M Zijlstra, et al.
American Journal of Human Genetics
|
March 20, 2021
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome
Susan M White, Elizabeth Bhoj, Christoffer Nellåker, et al.
American Journal of Human Genetics
|
May 6, 2014
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea
Fan Xia, Matthew N Bainbridge, Tiong Yang Tan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 8, 2023
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance
Rebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, et al.
Journal of Medical Genetics
|
November 6, 2021
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program
Thomas Cloney, Lyndon Gallacher, Lynn S Pais, et al.
Brain : a Journal of Neurology
|
August 15, 2018
SYT1-associated neurodevelopmental disorder: a case series
Kate Baker, Sarah L Gordon, Holly Melland, et al.
American Journal of Human Genetics
|
May 16, 2020
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling
Thuy-Linh Le, Yunia Sribudiani, Xiaomin Dong, et al.
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of 76
Search research articles
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Showing results (721-730 of 757) with videos related to
Sort By:
Page
of 76
European Journal of Human Genetics : EJHG
|
June 9, 2017
Genotype and phenotype spectrum of NRAS germline variants
Franziska Altmüller, Christina Lissewski, Debora Bertola, et al.
American Journal of Human Genetics
|
March 5, 2016
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
James T Bennett, Tiong Yang Tan, Diana Alcantara, et al.
JAMA Pediatrics
|
August 1, 2017
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, et al.
Journal of Inherited Metabolic Disease
|
January 18, 2023
MOGS-CDG: Quantitative analysis of the diagnostic Glc<sub>3</sub> Man tetrasaccharide and clinical spectrum of six new cases
Merel A Post, Isis de Wit, Fokje S M Zijlstra, et al.
American Journal of Human Genetics
|
March 20, 2021
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome
Susan M White, Elizabeth Bhoj, Christoffer Nellåker, et al.
American Journal of Human Genetics
|
May 6, 2014
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea
Fan Xia, Matthew N Bainbridge, Tiong Yang Tan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 8, 2023
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance
Rebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, et al.
Journal of Medical Genetics
|
November 6, 2021
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program
Thomas Cloney, Lyndon Gallacher, Lynn S Pais, et al.
Brain : a Journal of Neurology
|
August 15, 2018
SYT1-associated neurodevelopmental disorder: a case series
Kate Baker, Sarah L Gordon, Holly Melland, et al.
American Journal of Human Genetics
|
May 16, 2020
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling
Thuy-Linh Le, Yunia Sribudiani, Xiaomin Dong, et al.
Page
of 76