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American Journal of Human Genetics
|
June 9, 2009
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations
Paweł Stankiewicz, Partha Sen, Samarth S Bhatt, et al.
European Journal of Human Genetics : EJHG
|
October 7, 2018
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
Rosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 15, 2023
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
Jussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 6, 2025
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
Susan Walker, David J Bunyan, Huw B Thomas, et al.
Kidney International
|
August 5, 2020
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes
Martina Živná, Kendrah Kidd, Mohamad Zaidan, et al.
Human Mutation
|
June 14, 2018
Further delineation of Malan syndrome
Manuela Priolo, Denny Schanze, Katrin Tatton-Brown, et al.
American Journal of Human Genetics
|
May 22, 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
Alistair T Pagnamenta, Jing Yu, Susan Walker, et al.
Nature
|
April 21, 2006
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage
Michael C Zody, Manuel Garber, David J Adams, et al.
Human Mutation
|
March 19, 2013
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain
Partha Sen, Yaping Yang, Colby Navarro, et al.
Human Genetics
|
April 14, 2016
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
Przemyslaw Szafranski, Tomasz Gambin, Avinash V Dharmadhikari, et al.
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of 7
Search research articles
Search
Showing results (51-60 of 62) with videos related to
Sort By:
Page
of 7
American Journal of Human Genetics
|
June 9, 2009
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations
Paweł Stankiewicz, Partha Sen, Samarth S Bhatt, et al.
European Journal of Human Genetics : EJHG
|
October 7, 2018
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
Rosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 15, 2023
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
Jussi Pekka Tolonen, Ricardo Parolin Schnekenberg, Simon McGowan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 6, 2025
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
Susan Walker, David J Bunyan, Huw B Thomas, et al.
Kidney International
|
August 5, 2020
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes
Martina Živná, Kendrah Kidd, Mohamad Zaidan, et al.
Human Mutation
|
June 14, 2018
Further delineation of Malan syndrome
Manuela Priolo, Denny Schanze, Katrin Tatton-Brown, et al.
American Journal of Human Genetics
|
May 22, 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
Alistair T Pagnamenta, Jing Yu, Susan Walker, et al.
Nature
|
April 21, 2006
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage
Michael C Zody, Manuel Garber, David J Adams, et al.
Human Mutation
|
March 19, 2013
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain
Partha Sen, Yaping Yang, Colby Navarro, et al.
Human Genetics
|
April 14, 2016
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
Przemyslaw Szafranski, Tomasz Gambin, Avinash V Dharmadhikari, et al.
Page
of 7