Results
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1701.
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Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations. [electronic resource] by
- Mercier, Sandra
- Küry, Sébastien
- Salort-Campana, Emmanuelle
- Magot, Armelle
- Agbim, Uchenna
- Besnard, Thomas
- Bodak, Nathalie
- Bou-Hanna, Chantal
- Bréhéret, Flora
- Brunelle, Perrine
- Caillon, Florence
- Chabrol, Brigitte
- Cormier-Daire, Valérie
- David, Albert
- Eymard, Bruno
- Faivre, Laurence
- Figarella-Branger, Dominique
- Fleurence, Emmanuelle
- Ganapathi, Mythily
- Gherardi, Romain
- Goldenberg, Alice
- Hamel, Antoine
- Igual, Jeanine
- Irvine, Alan D
- Israël-Biet, Dominique
- Kannengiesser, Caroline
- Laboisse, Christian
- Le Caignec, Cédric
- Mahé, Jean-Yves
- Mallet, Stéphanie
- MacGowan, Stuart
- McAleer, Maeve A
- McLean, Irwin
- Méni, Cécile
- Munnich, Arnold
- Mussini, Jean-Marie
- Nagy, Peter L
- Odel, Jeffrey
- O'Regan, Grainne M
- Péréon, Yann
- Perrier, Julie
- Piard, Juliette
- Puzenat, Eve
- Sampson, Jacinda B
- Smith, Frances
- Soufir, Nadem
- Tanji, Kurenai
- Thauvin, Christel
- Ulane, Christina
- Watson, Rosemarie M
- Khumalo, Nonhlanhla P
- Mayosi, Bongani M
- Barbarot, Sébastien
- Bézieau, Stéphane
Producer: 20160706
In:
Orphanet journal of rare diseases vol. 10
Availability: No items available.
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1702.
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1703.
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1704.
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The miRNA-processing enzyme dicer is essential for the morphogenesis and maintenance of hair follicles. [electronic resource] by
- Andl, Thomas
- Murchison, Elizabeth P
- Liu, Fei
- Zhang, Yuhang
- Yunta-Gonzalez, Monica
- Tobias, John W
- Andl, Claudia D
- Seykora, John T
- Hannon, Gregory J
- Millar, Sarah E
Producer: 20060911
In:
Current biology : CB vol. 16
Availability: No items available.
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1705.
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1706.
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A Novel FOXL2 Mutation Implying Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I. [electronic resource] by
- Li, Fang
- Chai, Peiwei
- Fan, Jiayan
- Wang, Xi
- Lu, Wenjuan
- Li, Jin
- Ge, Shengfang
- Jia, Renbing
- Zhang, He
- Fan, Xianqun
Producer: 20180316
In:
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology vol. 45
Availability: No items available.
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1707.
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Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature. [electronic resource] by
- Li, Niu
- Chang, Guoying
- Xu, Yufei
- Ding, Yu
- Li, Guoqiang
- Yu, Tingting
- Yao, Ruen
- Li, Juan
- Shen, Yiping
- Wang, Xiumin
- Wang, Jian
Producer: 20180321
In:
American journal of medical genetics. Part A vol. 173
Availability: No items available.
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1708.
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1709.
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Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis. [electronic resource] by
- Okazaki, Tetsuya
- Saito, Yoshiaki
- Ueda, Riyo
- Awashima, Takeya
- Nishimura, Yoko
- Yuasa, Isao
- Shinohara, Yuki
- Adachi, Kaori
- Sasaki, Masayuki
- Nanba, Eiji
- Maegaki, Yoshihiro
Producer: 20170214
In:
Brain & development vol. 39
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1710.
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1711.
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1712.
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1713.
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No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome. [electronic resource] by
- Tröger, Birte
- Kutsche, Kerstin
- Bolz, Hanno
- Lüttgen, Sabine
- Gal, Andreas
- Almassy, Zsuzsanna
- Caliebe, Almuth
- Freisinger, Peter
- Hobbiebrunken, Elke
- Morlot, Michel
- Stefanova, Margarita
- Streubel, Berthold
- Wieczorek, Dagmar
- Meinecke, Peter
Producer: 20040317
In:
American journal of medical genetics. Part A vol. 121A
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