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Human Genetics
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April 24, 2016
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability
Jonathan D J Labonne, Kang-Han Lee, Shigeki Iwase, et al.
The Journal of Clinical Endocrinology and Metabolism
|
August 6, 2002
FSH beta gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia
Lawrence C Layman, Adriana L A Porto, Jun Xie, et al.
International Journal of Pediatric Endocrinology
|
October 15, 2011
Unique phenotype in a patient with CHARGE syndrome
Shobhit Jain, Hyung-Goo Kim, Felicitas Lacbawan, et al.
Cardiovascular Diabetology
|
September 7, 2023
Endogenous estradiol contributes to vascular endothelial dysfunction in premenopausal women with type 1 diabetes
Abigayle B Simon, Cassandra C Derella, Marsha Blackburn, et al.
Molecular Cytogenetics
|
August 2, 2016
A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3
Lacey S Williams, Hyung-Goo Kim, Vera M Kalscheuer, et al.
Molecular and Cellular Endocrinology
|
December 10, 2013
Differential expression of nasal embryonic LHRH factor (NELF) variants in immortalized GnRH neuronal cell lines
Samuel D Quaynor, Lindsey Y Goldberg, Eun Kyung Ko, et al.
Molecular and Cellular Endocrinology
|
December 23, 2009
NELF is a nuclear protein involved in hypothalamic GnRH neuronal migration
Ning Xu, Balasubramanian Bhagavath, Hyung-Goo Kim, et al.
Molecular and Cellular Endocrinology
|
March 4, 2015
NELF knockout is associated with impaired pubertal development and subfertility
Samuel D Quaynor, Eun Kyung Ko, Lynn P Chorich, et al.
Human Genetics
|
February 16, 2023
Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping
Soumia Brakta, Zoe A Hawkins, Nikhil Sahajpal, et al.
Molecular Cytogenetics
|
February 14, 2018
Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia
Durkadin Demir Eksi, Yiping Shen, Munire Erman, et al.
Page
of 11
Search research articles
Search
Showing results (71-80 of 104) with videos related to
Sort By:
Page
of 11
Human Genetics
|
April 24, 2016
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability
Jonathan D J Labonne, Kang-Han Lee, Shigeki Iwase, et al.
The Journal of Clinical Endocrinology and Metabolism
|
August 6, 2002
FSH beta gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia
Lawrence C Layman, Adriana L A Porto, Jun Xie, et al.
International Journal of Pediatric Endocrinology
|
October 15, 2011
Unique phenotype in a patient with CHARGE syndrome
Shobhit Jain, Hyung-Goo Kim, Felicitas Lacbawan, et al.
Cardiovascular Diabetology
|
September 7, 2023
Endogenous estradiol contributes to vascular endothelial dysfunction in premenopausal women with type 1 diabetes
Abigayle B Simon, Cassandra C Derella, Marsha Blackburn, et al.
Molecular Cytogenetics
|
August 2, 2016
A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3
Lacey S Williams, Hyung-Goo Kim, Vera M Kalscheuer, et al.
Molecular and Cellular Endocrinology
|
December 10, 2013
Differential expression of nasal embryonic LHRH factor (NELF) variants in immortalized GnRH neuronal cell lines
Samuel D Quaynor, Lindsey Y Goldberg, Eun Kyung Ko, et al.
Molecular and Cellular Endocrinology
|
December 23, 2009
NELF is a nuclear protein involved in hypothalamic GnRH neuronal migration
Ning Xu, Balasubramanian Bhagavath, Hyung-Goo Kim, et al.
Molecular and Cellular Endocrinology
|
March 4, 2015
NELF knockout is associated with impaired pubertal development and subfertility
Samuel D Quaynor, Eun Kyung Ko, Lynn P Chorich, et al.
Human Genetics
|
February 16, 2023
Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping
Soumia Brakta, Zoe A Hawkins, Nikhil Sahajpal, et al.
Molecular Cytogenetics
|
February 14, 2018
Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia
Durkadin Demir Eksi, Yiping Shen, Munire Erman, et al.
Page
of 11