Results
|
381.
|
High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia. [electronic resource] by
- Kim, Jae-Min
- Choi, Jin-Ho
- Lee, Jung Hyun
- Kim, Gu-Hwan
- Lee, Beom Hee
- Kim, Hae Soon
- Shin, Jeh-Hoon
- Shin, Choong-Ho
- Kim, Chan Jong
- Yu, Jeesuk
- Lee, Dae-Yeol
- Cho, Won Kyoung
- Suh, Byung-Kyu
- Lee, Ji Eun
- Chung, Hye Rim
- Yoo, Han-Wook
Producer: 20120424
In:
European journal of endocrinology vol. 165
Availability: No items available.
|
|
382.
|
|
|
383.
|
|
|
384.
|
|
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385.
|
|
|
386.
|
|
|
387.
|
|
|
388.
|
Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development. [electronic resource] by
- Baetens, Dorien
- Güran, Tülay
- Mendonca, Berenice B
- Gomes, Nathalia L
- De Cauwer, Lode
- Peelman, Frank
- Verdin, Hannah
- Vuylsteke, Marnik
- Van der Linden, Malaïka
- Atay, Zeynep
- Bereket, Abdullah
- de Krijger, Ronald R
- Preter, Katleen de
- Domenice, Sorahia
- Turan, Serap
- Stoop, Hans
- Looijenga, Leendert H
- De Bosscher, Karolien
- Cools, Martine
- De Baere, Elfride
Producer: 20181211
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 20
Availability: No items available.
|
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389.
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|
|
390.
|
|
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391.
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392.
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|
|
393.
|
|
|
394.
|
|
|
395.
|
Diagnosis of 5α-reductase 2 deficiency: is measurement of dihydrotestosterone essential? [electronic resource] by
- Chan, Angel On Kei
- But, Betty Wai Man
- Lee, Ching Yin
- Lam, Yuen Yu
- Ng, Kwok Leung
- Tung, Joanna Yuet Ling
- Kwan, Elaine Yin Wah
- Chan, Yuk Kit
- Tsui, Teresa Kam Chi
- Lam, Almen Lai Na
- Tse, Wing Yee
- Cheung, Pik To
- Shek, Chi Chung
Producer: 20130624
In:
Clinical chemistry vol. 59
Availability: No items available.
|
|
396.
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A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis. [electronic resource] by
- Calvel, Pierre
- Kusz-Zamelczyk, Kamila
- Makrythanasis, Periklis
- Janecki, Damian
- Borel, Christelle
- Conne, Béatrice
- Vannier, Anne
- Béna, Frédérique
- Gimelli, Stefania
- Fichna, Piotr
- Antonarakis, Stylianos E
- Nef, Serge
- Jaruzelska, Jadwiga
Producer: 20160907
In:
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation vol. 9
Availability: No items available.
|
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397.
|
|
|
398.
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|
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400.
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