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Genes
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November 12, 2016
Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort
Kyungsoo Ha, Priya Anand, Jennifer A Lee, et al.
Clinical Endocrinology
|
December 18, 2003
Analysis of the PROP1 gene in a large cohort of patients with idiopathic hypogonadotropic hypogonadism
John K Park, Metin Ozata, Lynn P Chorich, et al.
Journal of Clinical Medicine
|
January 23, 2020
Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31
Jonathan D J Labonne, Terri M Driessen, Marvin E Harris, et al.
Frontiers in Psychiatry
|
November 29, 2023
Identification of two novel autism genes, <i>TRPC4</i> and <i>SCFD2</i>, in Qatar simplex families through exome sequencing
Vijay Gupta, Afif Ben-Mahmoud, Bonsu Ku, et al.
Fertility and Sterility
|
June 11, 2017
Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families
Lacey S Williams, Durkadin Demir Eksi, Yiping Shen, et al.
Molecular and Cellular Endocrinology
|
April 10, 2024
Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome
Soumia Brakta, Quansheng Du, Lynn P Chorich, et al.
American Journal of Medical Genetics. Part A
|
August 18, 2021
Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome
Matheus Augusto Araújo Castro, Juliana Heather Vedovato Dos Santos, Rachel Sayuri Honjo, et al.
Molecular and Cellular Endocrinology
|
August 10, 2016
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome
Samuel D Quaynor, Maggie E Bosley, Christina G Duckworth, et al.
The New England Journal of Medicine
|
March 15, 2023
Unexplained Female Infertility Associated with Genetic Disease Variants
Michael P Dougherty, Alexandra M Poch, Lynn P Chorich, et al.
Human Genetics
|
January 20, 2021
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome
Sasha Mikhael, Sonal Dugar, Madison Morton, et al.
Page
of 11
Search research articles
Search
Showing results (81-90 of 104) with videos related to
Sort By:
Page
of 11
Genes
|
November 12, 2016
Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort
Kyungsoo Ha, Priya Anand, Jennifer A Lee, et al.
Clinical Endocrinology
|
December 18, 2003
Analysis of the PROP1 gene in a large cohort of patients with idiopathic hypogonadotropic hypogonadism
John K Park, Metin Ozata, Lynn P Chorich, et al.
Journal of Clinical Medicine
|
January 23, 2020
Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31
Jonathan D J Labonne, Terri M Driessen, Marvin E Harris, et al.
Frontiers in Psychiatry
|
November 29, 2023
Identification of two novel autism genes, <i>TRPC4</i> and <i>SCFD2</i>, in Qatar simplex families through exome sequencing
Vijay Gupta, Afif Ben-Mahmoud, Bonsu Ku, et al.
Fertility and Sterility
|
June 11, 2017
Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families
Lacey S Williams, Durkadin Demir Eksi, Yiping Shen, et al.
Molecular and Cellular Endocrinology
|
April 10, 2024
Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome
Soumia Brakta, Quansheng Du, Lynn P Chorich, et al.
American Journal of Medical Genetics. Part A
|
August 18, 2021
Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome
Matheus Augusto Araújo Castro, Juliana Heather Vedovato Dos Santos, Rachel Sayuri Honjo, et al.
Molecular and Cellular Endocrinology
|
August 10, 2016
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome
Samuel D Quaynor, Maggie E Bosley, Christina G Duckworth, et al.
The New England Journal of Medicine
|
March 15, 2023
Unexplained Female Infertility Associated with Genetic Disease Variants
Michael P Dougherty, Alexandra M Poch, Lynn P Chorich, et al.
Human Genetics
|
January 20, 2021
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome
Sasha Mikhael, Sonal Dugar, Madison Morton, et al.
Page
of 11