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Lawrence C Layman

Showing results (71-80 of 104) with videos related to

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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 disabilityJonathan 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 azoospermiaLawrence 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 syndromeShobhit 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 diabetesAbigayle 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 16p13.3Lacey 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 linesSamuel 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 migrationNing Xu, Balasubramanian Bhagavath, Hyung-Goo Kim, et al.
Molecular and Cellular Endocrinology|March 4, 2015
NELF knockout is associated with impaired pubertal development and subfertilitySamuel 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 mappingSoumia 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 aplasiaDurkadin Demir Eksi, Yiping Shen, Munire Erman, et al.
Pageof 11

Showing results (71-80 of 104) with videos related to

Sort By:
Pageof 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 disabilityJonathan 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 azoospermiaLawrence 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 syndromeShobhit 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 diabetesAbigayle 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 16p13.3Lacey 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 linesSamuel 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 migrationNing Xu, Balasubramanian Bhagavath, Hyung-Goo Kim, et al.
Molecular and Cellular Endocrinology|March 4, 2015
NELF knockout is associated with impaired pubertal development and subfertilitySamuel 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 mappingSoumia 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 aplasiaDurkadin Demir Eksi, Yiping Shen, Munire Erman, et al.
Pageof 11