Results
|
2241.
|
A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD. [electronic resource] by
- Naasse, Yassine
- Bakhchane, Amina
- Charoute, Hicham
- Jennane, Farida
- Bignon-Topalovic, Joelle
- Malki, Abderrahim
- Bashamboo, Anu
- Barakat, Abdelhamid
- Rouba, Hassan
- McElreavey, Ken
Producer: 20181022
In:
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation vol. 11
Availability: No items available.
|
|
2242.
|
Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda. [electronic resource] by
- Marrakchi, Slaheddine
- Audebert, Stéphanie
- Bouadjar, Bakar
- Has, Christina
- Lefèvre, Caroline
- Munro, Colin
- Cure, Susan
- Jobard, Florence
- Morlot, Susanne
- Hohl, Daniel
- Prud'homme, Jean-François
- Zahaf, Abdelmadjid
- Turki, Hamida
- Fischer, Judith
Producer: 20030512
In:
The Journal of investigative dermatology vol. 120
Availability: No items available.
|
|
2243.
|
|
|
2244.
|
Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia. [electronic resource] by
- Takeichi, Takuya
- Torrelo, Antonio
- Lee, John Y W
- Ohno, Yusuke
- Lozano, María Luisa
- Kihara, Akio
- Liu, Lu
- Yasuda, Yuka
- Ishikawa, Junko
- Murase, Takatoshi
- Rodrigo, Ana Belén
- Fernández-Crehuet, Pablo
- Toi, Yoichiro
- Mellerio, Jemima
- Rivera, José
- Vicente, Vicente
- Kelsell, David P
- Nishimura, Yutaka
- Okuno, Yusuke
- Kojima, Daiei
- Ogawa, Yasushi
- Sugiura, Kazumitsu
- Simpson, Michael A
- McLean, W H Irwin
- Akiyama, Masashi
- McGrath, John A
Producer: 20171102
In:
The Journal of investigative dermatology vol. 137
Availability: No items available.
|
|
2245.
|
|
|
2246.
|
|
|
2247.
|
|
|
2248.
|
|
|
2249.
|
|
|
2250.
|
|
|
2251.
|
|
|
2252.
|
|
|
2253.
|
|
|
2254.
|
|
|
2255.
|
|
|
2256.
|
|
|
2257.
|
|
|
2258.
|
|
|
2259.
|
|
|
2260.
|
|