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American Journal of Medical Genetics. Part A
|
August 9, 2018
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo
Aimé Lumaka, Valerie Race, Hilde Peeters, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 21, 2020
DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age
Silke Peeters, Ken Declerck, Muriel Thomas, et al.
BMJ Case Reports
|
July 2, 2011
The C20orf133 gene is disrupted in a patient with Kabuki syndrome
Nicole M C Maas, Tom Van de Putte, Cindy Melotte, et al.
Journal of Medical Genetics
|
June 26, 2007
The C20orf133 gene is disrupted in a patient with Kabuki syndrome
Nicole M C Maas, Tom Van de Putte, Cindy Melotte, et al.
American Journal of Human Genetics
|
October 3, 2017
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements
Wolfram Demaerel, Matthew S Hestand, Elfi Vergaelen, et al.
European Journal of Medical Genetics
|
February 15, 2020
Next-generation sequencing in prenatal setting: Some examples of unexpected variant association
Berardo Rinaldi, Valerie Race, Anniek Corveleyn, et al.
American Journal of Human Genetics
|
September 8, 2018
Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements
Wolfram Demaerel, Matthew S Hestand, Elfi Vergaelen, et al.
European Journal of Medical Genetics
|
September 8, 2014
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX
Morad Ansari, Jacqueline K Rainger, Jennie E Murray, et al.
Human Mutation
|
May 10, 2016
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern
Nathalie Fieremans, Hilde Van Esch, Maureen Holvoet, et al.
Annals of Human Genetics
|
May 16, 2025
First Insights Into the Phenotype and Genotype of Inherited Retinal Disorders in the Democratic Republic of Congo (DRC)
Nadine Nsiangani Lusambo, Patrick Fuanani, Gerrye Mubungu, et al.
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of 19
Search research articles
Search
Showing results (121-130 of 190) with videos related to
Sort By:
Page
of 19
American Journal of Medical Genetics. Part A
|
August 9, 2018
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo
Aimé Lumaka, Valerie Race, Hilde Peeters, et al.
The Journal of Clinical Endocrinology and Metabolism
|
July 21, 2020
DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age
Silke Peeters, Ken Declerck, Muriel Thomas, et al.
BMJ Case Reports
|
July 2, 2011
The C20orf133 gene is disrupted in a patient with Kabuki syndrome
Nicole M C Maas, Tom Van de Putte, Cindy Melotte, et al.
Journal of Medical Genetics
|
June 26, 2007
The C20orf133 gene is disrupted in a patient with Kabuki syndrome
Nicole M C Maas, Tom Van de Putte, Cindy Melotte, et al.
American Journal of Human Genetics
|
October 3, 2017
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements
Wolfram Demaerel, Matthew S Hestand, Elfi Vergaelen, et al.
European Journal of Medical Genetics
|
February 15, 2020
Next-generation sequencing in prenatal setting: Some examples of unexpected variant association
Berardo Rinaldi, Valerie Race, Anniek Corveleyn, et al.
American Journal of Human Genetics
|
September 8, 2018
Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements
Wolfram Demaerel, Matthew S Hestand, Elfi Vergaelen, et al.
European Journal of Medical Genetics
|
September 8, 2014
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX
Morad Ansari, Jacqueline K Rainger, Jennie E Murray, et al.
Human Mutation
|
May 10, 2016
Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern
Nathalie Fieremans, Hilde Van Esch, Maureen Holvoet, et al.
Annals of Human Genetics
|
May 16, 2025
First Insights Into the Phenotype and Genotype of Inherited Retinal Disorders in the Democratic Republic of Congo (DRC)
Nadine Nsiangani Lusambo, Patrick Fuanani, Gerrye Mubungu, et al.
Page
of 19