Detalhe da pesquisa
1.
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
Dev Cell
; 1(5): 717-24, 2001 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-11709191
2.
PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents.
Clin Genet
; 81(3): 294-7, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22211708
3.
Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.
Neuromuscul Disord
; 15(8): 521-4, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15961312
4.
Myogenesis within the human gubernaculum: histological and immunohistochemical evaluation.
Eur J Pediatr Surg
; 15(3): 175-9, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15999310
5.
A rare malignant hepatic tumor of childhood: transitional liver cell tumor revisited.
JBR-BTR
; 98(2): 79-81, 2015 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30394434
6.
Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes.
Neurology
; 58(2): 231-6, 2002 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-11805249
7.
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
Neurology
; 56(8): 1059-69, 2001 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-11320179
8.
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
Neurology
; 59(4): 620-3, 2002 Aug 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-12196663
9.
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci.
Neuromuscul Disord
; 10(8): 548-52, 2000 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-11053680
10.
Merosin-deficient congenital muscular dystrophy with severe mental retardation and normal cranial MRI: a report of two siblings.
Neuromuscul Disord
; 8(3-4): 169-74, 1998 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-9631397
11.
Merosin-positive congenital muscular dystrophy with mental retardation and cataracts: a new entity in two families.
Eur J Paediatr Neurol
; 1(4): 127-31, 1997.
Artigo
em Inglês
| MEDLINE | ID: mdl-10728208
12.
Differences in the morphology of the processus vaginalis with sex and underlying disease condition.
Pathol Res Pract
; 196(11): 767-70, 2000.
Artigo
em Inglês
| MEDLINE | ID: mdl-11186172
13.
Clinical spectrum of muscle-eye-brain disease: from the typical presentation to severe autistic features.
Acta Myol
; 23(3): 137-9, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15938569
14.
Beta-sarcoglycan gene mutations in Turkey.
Acta Myol
; 23(3): 154-8, 2004 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-15938573
15.
Renal oncocytoma: diagnostic and therapeutic aspects.
J Pediatr Surg
; 35(9): 1396-8, 2000 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-10999712
16.
A comparative histopathologic evaluation of the effects of three different solutions used for whole bowel irrigation: an experimental study.
J Pediatr Surg
; 35(4): 564-8, 2000 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-10770382
17.
Pulmonary lymphomatoid granulomatosis in a 4 year old.
J Pediatr Surg
; 34(6): 1033-5, 1999 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-10392931
18.
Congenital epulis of the newborn. A case report.
Turk J Pediatr
; 40(1): 127-9, 1998.
Artigo
em Inglês
| MEDLINE | ID: mdl-9673539
19.
The role of heterotopic gastric mucosa with or without colonization of Helicobacter pylori upon the diverse symptomatology of Meckel's diverticulum in children.
Turk J Pediatr
; 43(4): 312-6, 2001.
Artigo
em Inglês
| MEDLINE | ID: mdl-11765161
20.
MR imaging of pelvic and thigh muscles in congenital muscular dystrophy.
Turk J Pediatr
; 43(1): 44-51, 2001.
Artigo
em Inglês
| MEDLINE | ID: mdl-11297158