Detalhe da pesquisa
1.
Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.
Am J Med Genet A
; 185(2): 344-354, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33155358
2.
Alterations of bone material properties in adult patients with X-linked hypophosphatemia (XLH).
J Struct Biol
; 211(3): 107556, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32619592
3.
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Nat Genet
; 40(9): 1065-7, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19165920
4.
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.
Brain
; 136(Pt 2): 536-48, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23361065
5.
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
Brain
; 136(Pt 12): 3634-44, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24176978
6.
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
Hum Mol Genet
; 19(14): 2817-27, 2010 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20466733
7.
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
J Med Genet
; 48(6): 396-406, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21441262
8.
Phenotypic spectrum associated with CASK loss-of-function mutations.
J Med Genet
; 48(11): 741-51, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21954287
9.
How Did SARS-CoV-2 Pandemic Affect the Cats' Health in Hatay Province? A retrospective study.
Top Companion Anim Med
; 50: 100696, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35918018
10.
Identifying adult hypophosphatasia in the rheumatology unit.
Orphanet J Rare Dis
; 17(1): 435, 2022 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36514157
11.
Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjögren syndrome: Case report and literature review.
Eur J Ophthalmol
; 32(3): NP92-NP97, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34075802
12.
Clinical, Hematologic, Biologic and Molecular Characteristics of Patients with Myeloproliferative Neoplasms and a Chronic Myelomonocytic Leukemia-Like Phenotype.
Cancers (Basel)
; 12(7)2020 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32674283
13.
HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study.
PLoS One
; 13(11): e0207415, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30427934
14.
Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.
Acta Myol
; 37(3): 210-220, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30838351
15.
A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation.
Eur J Paediatr Neurol
; 11(1): 46-9, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17161965
16.
Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.
J Child Neurol
; 32(8): 759-765, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28464723
17.
Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literature.
Clin Neurol Neurosurg
; 108(7): 692-8, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16102895
18.
Memantine: a therapeutic approach in treating Alzheimer's and vascular dementia.
Curr Drug Targets CNS Neurol Disord
; 4(5): 499-506, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16266284
19.
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
Neuromuscul Disord
; 15(4): 271-5, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15792865
20.
A dimensional impulsive-aggressive phenotype is associated with the A218C polymorphism of the tryptophan hydroxylase gene: a pilot study in well-characterized impulsive inpatients.
Am J Med Genet
; 114(5): 553-7, 2002 Jul 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-12116193