|
🐜
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TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction
15 auth.
A. Topaloğlu,
F. Reimann,
M. Guclu,
A. Yalin,
L. D. Kotan,
K. Porter,
Ayse Serin,
N. Mungan,
Joshua R. Cook,
M. Ozbek,
...
Ş. Imamoğlu,
N. S. Akalin,
B. Yuksel,
S. O’Rahilly,
R. Semple
|
9 |
2009 |
9
🐜
|
|
🐜
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Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.
19 auth.
A. Topaloğlu,
A. Lomniczi,
D. Kretzschmar,
G. Dissen,
L. D. Kotan,
C. McArdle,
A. Koç,
B. Hamel,
M. Guclu,
Esra D. Papatya,
...
E. Eren,
Eda Mengen,
F. Gurbuz,
Mandy Cook,
J. M. Castellano,
M. B. Kekil,
N. Mungan,
B. Yuksel,
S. Ojeda
|
6 |
2014 |
6
🐜
|
|
🐜
|
Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients
51 auth.
C. Staufner,
B. Peters,
M. Wagner,
Seham Alameer,
I. Barić,
P. Broué,
D. Bulut,
J. Church,
E. Crushell,
B. Dalgıç,
A. Das,
A. Dick,
N. Dikow,
C. Dionisi-Vici,
F. Distelmaier,
...
N. E. Bozbulut,
F. Feillet,
E. Gonzales,
N. Hadžić,
F. Hauck,
R. Hegarty,
M. Hempel,
Theresia Herget,
C. Klein,
V. Konstantopoulou,
R. Kopajtich,
A. Kuster,
M. Laaß,
E. Lainka,
C. Larson-Nath,
Alexander Leibner,
E. Lurz,
J. Mayr,
P. McKiernan,
K. Mention,
U. Moog,
N. Mungan,
K. Riedhammer,
R. Santer,
I. V. Palafoll,
J. Vockley,
D. Westphal,
A. Wiedemann,
S. Wortmann,
Gaurav D. Diwan,
R. Russell,
H. Prokisch,
S. Garbade,
S. Kölker,
G. Hoffmann,
Dominic Lenz
|
5 |
2019 |
5
🐜
|
|
🐜
|
Can untreated PKU patients escape from intellectual disability? A systematic review
35 auth.
D. van Vliet,
A. V. van Wegberg,
K. Ahring,
M. Bik-Multanowski,
N. Blau,
F. Bulut,
K. Casas,
B. Didycz,
M. Djordjević,
A. Federico,
F. Feillet,
M. Giżewska,
G. Gramer,
J. Hertecant,
C. Hollak,
...
J. V. Jørgensen,
D. Karall,
Y. Landau,
V. Leuzzi,
P. Mathisen,
K. Moseley,
N. Mungan,
Francesca Nardecchia,
K. Õunap,
Kimberly K. Powell,
R. Ramachandran,
F. Rutsch,
A. Setoodeh,
M. Stojiljkovic,
F. Trefz,
N. Usurelu,
Callum Wilson,
C. V. van Karnebeek,
W. Hanley,
F. V. van Spronsen
|
5 |
2018 |
5
🐜
|
|
🐜
|
Molecular Genetic Analysis of Normosmic Hypogonadotropic Hypogonadism in a Turkish Population: Identification and Detailed Functional Characterization of a Novel Mutation in the Gonadotropin-Releasing Hormone Receptor Gene
7 auth.
A. Topaloğlu,
Zhi-Liang Lu,
I. Farooqi,
N. Mungan,
B. Yuksel,
S. O’Rahilly,
...
R. Millar
|
5 |
2007 |
5
🐜
|
|
🐜
|
Wolcott–Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature *
8 auth.
M. Ozbek,
V. Senée,
Şehnaz Aydemir,
L. D. Kotan,
N. Mungan,
B. Yuksel,
...
C. Julier,
A. Topaloğlu
|
5 |
2010 |
5
🐜
|
|
🐜
|
Serum IGF-1 and IGFBP-3 Levels in Healthy Children Between 0 and 6 Years of Age
14 auth.
B. Yüksel,
M. Özbek,
N. Mungan,
F. Darendeliler,
B. Budan,
A. Bideci,
Ergun Çetinkaya,
M. Berberoğlu,
O. Evliyaoğlu,
E. Yeşilkaya,
...
I. Arslanoglu,
S. Darcan,
R. Bundak,
O. Ercan
|
5 |
2011 |
5
🐜
|
|
🐜
|
Seroprevalence of rubella in school girls and pregnant women
7 auth.
G. Karakoc,
D. Altıntaş,
B. Kılınc,
Aysun Karabay,
N. Mungan,
M. Yılmaz,
...
N. Evliyaoğlu
|
5 |
2004 |
5
🐜
|
|
🐬
|
Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data
E. Shapiro,
C. Lourenço,
N. Mungan,
N. Muschol,
C. O’Neill,
S. Vijayaraghavan
|
4 |
2019 |
4
🐬
|
|
🐬
|
Bone calcium changes during diabetic ketoacidosis: a comparison with lactic acidosis due to volume depletion.
A. Topaloğlu,
D. Yıldızdaş,
H. Levent Yilmaz,
N. Mungan,
B. Yuksel,
G. Ozer
|
4 |
2005 |
4
🐬
|
