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Endocrine Development
|
December 19, 2015
Genetics of Hypogonadotropic Hypogonadism
A Kemal Topaloglu, L Damla Kotan
Pediatric Diabetes
|
March 6, 2010
Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature
M Nuri Ozbek, Valérie Senée, Sehnaz Aydemir, et al.
Hormone Research in Paediatrics
|
November 24, 2015
Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide
Eda Mengen, Selma Tunc, L Damla Kotan, et al.
The Journal of Clinical Endocrinology and Metabolism
|
March 22, 2017
CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism
Ihsan Turan, B Ian Hutchins, Bulent Hacihamdioglu, et al.
Clinical Endocrinology
|
September 30, 2014
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families
Huseyin Demirbilek, M Nuri Ozbek, Korcan Demir, et al.
The New England Journal of Medicine
|
February 17, 2012
Inactivating KISS1 mutation and hypogonadotropic hypogonadism
A Kemal Topaloglu, Javier A Tello, L Damla Kotan, et al.
Endocrinology
|
March 26, 2016
CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration
B Ian Hutchins, L Damla Kotan, Carol Taylor-Burds, et al.
American Journal of Human Genetics
|
September 6, 2014
Mutations in FEZF1 cause Kallmann syndrome
L Damla Kotan, B Ian Hutchins, Yusuf Ozkan, et al.
American Journal of Human Genetics
|
December 7, 2014
MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability
Michelle A Wood-Trageser, Fatih Gurbuz, Svetlana A Yatsenko, et al.
Biochimica Et Biophysica Acta
|
April 11, 2014
A rare variant in human fibroblast activation protein associated with ER stress, loss of enzymatic function and loss of cell surface localisation
Brenna Osborne, Tsun-Wen Yao, Xin Maggie Wang, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 15) with videos related to
Sort By:
Page
of 2
Endocrine Development
|
December 19, 2015
Genetics of Hypogonadotropic Hypogonadism
A Kemal Topaloglu, L Damla Kotan
Pediatric Diabetes
|
March 6, 2010
Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature
M Nuri Ozbek, Valérie Senée, Sehnaz Aydemir, et al.
Hormone Research in Paediatrics
|
November 24, 2015
Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide
Eda Mengen, Selma Tunc, L Damla Kotan, et al.
The Journal of Clinical Endocrinology and Metabolism
|
March 22, 2017
CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism
Ihsan Turan, B Ian Hutchins, Bulent Hacihamdioglu, et al.
Clinical Endocrinology
|
September 30, 2014
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families
Huseyin Demirbilek, M Nuri Ozbek, Korcan Demir, et al.
The New England Journal of Medicine
|
February 17, 2012
Inactivating KISS1 mutation and hypogonadotropic hypogonadism
A Kemal Topaloglu, Javier A Tello, L Damla Kotan, et al.
Endocrinology
|
March 26, 2016
CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration
B Ian Hutchins, L Damla Kotan, Carol Taylor-Burds, et al.
American Journal of Human Genetics
|
September 6, 2014
Mutations in FEZF1 cause Kallmann syndrome
L Damla Kotan, B Ian Hutchins, Yusuf Ozkan, et al.
American Journal of Human Genetics
|
December 7, 2014
MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability
Michelle A Wood-Trageser, Fatih Gurbuz, Svetlana A Yatsenko, et al.
Biochimica Et Biophysica Acta
|
April 11, 2014
A rare variant in human fibroblast activation protein associated with ER stress, loss of enzymatic function and loss of cell surface localisation
Brenna Osborne, Tsun-Wen Yao, Xin Maggie Wang, et al.
Page
of 2