Detalhe da pesquisa
1.
A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency.
J Inherit Metab Dis;
45(2): 169-182, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34741542
2.
Making sense of missense variants in TTN-related congenital myopathies.
Acta Neuropathol;
141(3): 431-453, 2021 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33449170
3.
Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey.
Am J Med Genet A;
185(6): 1678-1690, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33694278
4.
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
5.
Correction: The genomic and clinical landscape of fetal akinesia.
Genet Med;
22(8): 1426-1428, 2020 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32451403
6.
The genomic and clinical landscape of fetal akinesia.
Genet Med;
22(3): 511-523, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31680123
7.
Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia.
J Hum Genet;
64(10): 1051-1054, 2019 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31388109
8.
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia.
J Hum Genet;
64(8): 803-813, 2019 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31165786
9.
Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy.
Neuropediatrics;
50(6): 378-381, 2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31319422
10.
Mutation in CEP135 causing primary microcephaly and subcortical heterotopia.
Am J Med Genet A;
182(10): 2450-2453, 2020 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32643282
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.
Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy.
Acta Neuropathol Commun;
7(1): 211, 2019 12 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31852522
13.
Bi-allelic mutations in PRUNE lead to neurodegeneration with spinal motor neuron involvement and hyperCKaemia.
Turk J Pediatr;
61(6): 931-936, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32134588
14.
Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature.
Hum Genome Var;
6: 24, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31123592
15.
Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene.
Acta Myol;
37(2): 121-127, 2018 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30057997
16.
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
17.
A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy.
Acta Neuropathol Commun;
6(1): 83, 2018 08 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30157964