All individuals with variants in gene PPEF1

4 entries on 1 page. Showing entries 1 - 4.
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VIP     

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Owner     
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 12 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 8 1 Yu Sun
00087273 FamRS315 PubMed: Huopaniemi 2000 family, 2 affected sibs M no Denmark - - 0 - - RS1 typical X-linked juvenile retinoschisis; one patient had undergone asphyxia during neonatal age, suffers from mild hemiplegia, epilepsy, scar in one hemispheres 1 2 Johan den Dunnen
00173510 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 17 Lucy Raymond
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