Results
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1861.
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The combination of polyalanine expansion mutation and a novel missense substitution in transcription factor FOXL2 leads to different ovarian phenotypes in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) patients. [electronic resource] by
- Fan, Jiayan
- Zhou, Yixiong
- Huang, Xiaolin
- Zhang, Leilei
- Yao, Yuting
- Song, Xin
- Chen, Junzhao
- Hu, Jifan
- Ge, Shengfang
- Song, Huaidong
- Fan, Xianqun
Producer: 20130328
In:
Human reproduction (Oxford, England) vol. 27
Availability: No items available.
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1862.
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1863.
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1864.
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1865.
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1866.
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1867.
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1868.
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1869.
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Mice with targeted disruption of the fatty acid transport protein 4 (Fatp 4, Slc27a4) gene show features of lethal restrictive dermopathy. [electronic resource] by
- Herrmann, Thomas
- van der Hoeven, Frank
- Grone, Hermann-Josef
- Stewart, Adrian Francis
- Langbein, Lutz
- Kaiser, Iris
- Liebisch, Gerhard
- Gosch, Isabella
- Buchkremer, Florian
- Drobnik, Wolfgang
- Schmitz, Gerd
- Stremmel, Wolfgang
Producer: 20030814
In:
The Journal of cell biology vol. 161
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1870.
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Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. [electronic resource] by
- Marchegiani, Shannon
- Davis, Taylor
- Tessadori, Federico
- van Haaften, Gijs
- Brancati, Francesco
- Hoischen, Alexander
- Huang, Haigen
- Valkanas, Elise
- Pusey, Barbara
- Schanze, Denny
- Venselaar, Hanka
- Vulto-van Silfhout, Anneke T
- Wolfe, Lynne A
- Tifft, Cynthia J
- Zerfas, Patricia M
- Zambruno, Giovanna
- Kariminejad, Ariana
- Sabbagh-Kermani, Farahnaz
- Lee, Janice
- Tsokos, Maria G
- Lee, Chyi-Chia R
- Ferraz, Victor
- da Silva, Eduarda Morgana
- Stevens, Cathy A
- Roche, Nathalie
- Bartsch, Oliver
- Farndon, Peter
- Bermejo-Sanchez, Eva
- Brooks, Brian P
- Maduro, Valerie
- Dallapiccola, Bruno
- Ramos, Feliciano J
- Chung, Hon-Yin Brian
- Le Caignec, Cédric
- Martins, Fabiana
- Jacyk, Witold K
- Mazzanti, Laura
- Brunner, Han G
- Bakkers, Jeroen
- Lin, Shuo
- Malicdan, May Christine V
- Boerkoel, Cornelius F
- Gahl, William A
- de Vries, Bert B A
- van Haelst, Mieke M
- Zenker, Martin
- Markello, Thomas C
Producer: 20150925
In:
American journal of human genetics vol. 97
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1871.
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1872.
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1873.
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Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. [electronic resource] by
- Wimplinger, Isabella
- Morleo, Manuela
- Rosenberger, Georg
- Iaconis, Daniela
- Orth, Ulrike
- Meinecke, Peter
- Lerer, Israela
- Ballabio, Andrea
- Gal, Andreas
- Franco, Brunella
- Kutsche, Kerstin
Producer: 20061204
In:
American journal of human genetics vol. 79
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1874.
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1875.
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1876.
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1877.
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The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase. [electronic resource] by
- Liu, X Y
- Dangel, A W
- Kelley, R I
- Zhao, W
- Denny, P
- Botcherby, M
- Cattanach, B
- Peters, J
- Hunsicker, P R
- Mallon, A M
- Strivens, M A
- Bate, R
- Miller, W
- Rhodes, M
- Brown, S D
- Herman, G E
Producer: 19990629
In:
Nature genetics vol. 22
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1878.
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Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. [electronic resource] by
- Kleefstra, Tjitske
- Wortmann, Saskia B
- Rodenburg, Richard J T
- Bongers, Ernie M H F
- Hadzsiev, Kinga
- Noordam, Cees
- van den Heuvel, Lambert P
- Nillesen, Willy M
- Hollody, Katalin
- Gillessen-Kaesbach, Gabrielle
- Lammens, Martin
- Smeitink, Jan A M
- van der Burgt, Ineke
- Morava, Eva
Producer: 20110504
In:
European journal of human genetics : EJHG vol. 19
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1879.
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1880.
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