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1 .
Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide
저자
by
Ihsan Turan
;
Selma Tunc
;
Eda Mengen
;
L. Damla Kotan
;
Fatih Gurbuz
, et al.
소스
Hormone Research in Paediatrics
. 85:107-111
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7 .
Human Genetics of GnRH Neuron Function
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A. Kemal Topaloglu
;
L. Damla Kotan
.
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The GnRH Neuron and its Control
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4 .
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in theKISS1Rgene in three unrelated families
저자
by
Murat Doğan
;
M. Nuri Ozbek
;
Korcan Demir
;
L. Damla Kotan
;
Bilgin Yüksel
, et al.
소스
Clinical Endocrinology
. 82:429-438
Open Access (OpenAIRE)
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7 .
A rare variant in human fibroblast activation protein associated with ER stress, loss of enzymatic function and loss of cell surface localisation
저자
by
Denise M. T. Yu
;
Xin Maggie Wang
;
John F. Allen
;
Tsun-Wen Yao
;
Naveed A. Nadvi
, et al.
소스
Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics
. 1844:1248-1259
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7 .
CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism
저자
by
L. Damla Kotan
;
Ayca Ulubay
;
B. Ian Hutchins
;
Eda Mengen
;
Bülent Hacıhamdioğlu
, et al.
소스
The Journal of clinical endocrinology and metabolism
. 102(6)
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7 .
CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration
저자
by
Eda Mengen
;
A. Kemal Topaloglu
;
Jean D. R. Tiong
;
Yusuf Ozkan
;
Fatih Gurbuz
, et al.
소스
Endocrinology
. 157(5)
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7 .
InactivatingKISS1Mutation and Hypogonadotropic Hypogonadism
저자
by
Seref Erdogan
;
M. Bertan Yılmaz
;
Robert P. Millar
;
Fatih Gurbuz
;
Fatih Temiz
, et al.
소스
New England Journal of Medicine
. 366:629-635
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7 .
Genetics of Hypogonadotropic Hypogonadism
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L. Damla Kotan
;
A. Kemal Topaloglu
.
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4 .
MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability
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by
Elizabeth P. Jeffries
;
Jelena Matic
;
Aleksandar Rajkovic
;
A. Kemal Topaloglu
;
Svetlana A. Yatsenko
, et al.
소스
American journal of human genetics, vol 95, iss 6
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7 .
Mutations in FEZF1 Cause Kallmann Syndrome
저자
by
Eda Mengen
;
Y. Kenan Bicakci
;
Hudson Stoner
;
Paul J. Cheng
;
Fatma Demirel
, et al.
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