kw.\*:("fetal akinesia")
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Fetal akinesia deformation sequence presenting with increased nuchal translucency in the first trimester of pregnancyMAKRYDIMAS, George; SOTIRIADIS, Alexandros; PAPAPANAGIOTOU, George et al.Fetal diagnosis and therapy. 2004, Vol 19, Num 4, pp 332-335, issn 1015-3837, 4 p.Article
Recessive RYR1 Mutations in a Patient With Severe Congenital Nemaline Myopathy With Ophthalomoplegia Identified Through Massively Parallel SequencingKONDO, Eri; NISHIMURA, Takafumi; FURUKAWA, Toru et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 4, pp 772-778, issn 1552-4825, 7 p.Article
A new autosomal recessive congenital contractural syndrome in an Israeli bedouin kindredLANDAU, Daniella; MISHORI-DERY, Anat; HERSHKOVITZ, Reli et al.American journal of medical genetics. 2003, Vol 117A, Num 1, pp 37-40, issn 0148-7299, 4 p.Article
Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesiaROMERO, Norma Beatriz; MONNIER, Nicole; VIOLLET, Louis et al.Brain. 2003, Vol 126, pp 2341-2349, issn 0006-8950, 9 p., 11Article
Fowler Syndrome-A Clinical, Radiological, and Pathological Study of 14 CasesWILLIAMS, Denise; PATEL, Chirag; COX, Phillip et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 1, pp 153-160, issn 1552-4825, 8 p.Article
Fetal Akinesia in Metatropic Dysplasia: The Combined Phenotype of Chondrodysplasia and Neuropathy?UNGER, Sheila; LAUSCH, Ekkehart; SUPERTI-FURGA, Andrea et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 11, pp 2860-2864, issn 1552-4825, 5 p.Article
NON-LETHAL NEONATAL NEUROMUSCULAR VARIANT OF GLYCOGENOSIS TYPE IV WITH NOVEL GBE1 MUTATIONSFERNANDEZ, Carla; HALBERT, Cécile; DE PAULA, André Maues et al.Muscle & nerve. 2010, Vol 41, Num 2, pp 269-272, issn 0148-639X, 4 p.Article
Fetal akinesia deformation sequence: A study of 30 consecutive in utero diagnosesWITTERS, Ingrid; MOERMAN, Philippe; FRYNS, Jean-Pierre et al.American journal of medical genetics. 2002, Vol 113, Num 1, pp 23-28, issn 0148-7299, 6 p.Article
Three cases with de novo 6q imbalance and variable prenatal phenotypeGRATI, Francesca R; LALATTA, Faustina; BALDO, Demetrio et al.American journal of medical genetics. 2005, Vol 136A, Num 3, pp 254-258, issn 0148-7299, 5 p.Article
Fetal akinesia and associated abnormalities on prenatal MRINEMEC, Stefan F; HÖFTBERGER, Romana; PRAYER, Daniela et al.Prenatal diagnosis. 2011, Vol 31, Num 5, pp 484-490, issn 0197-3851, 7 p.Article
Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): Report of 16 fetal casesBESSIERES-GRATTAGLIANO, B; FOLIGUET, B; LETICEE, N et al.European journal of medical genetics. 2009, Vol 52, Num 6, pp 386-392, issn 1769-7212, 7 p.Article