Detalhe da pesquisa
1.
Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagella.
J Assist Reprod Genet
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38775994
2.
Results and perinatal outcomes from 189 ICSI cycles of couples with asthenozoospermic men and flagellar defects assessed by transmission electron microscopy.
Reprod Biomed Online
; 47(5): 103328, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37742467
3.
Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts.
Mol Genet Metab
; 123(4): 463-471, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29478817
4.
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Acta Neuropathol
; 134(6): 889-904, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28685322
5.
Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients.
Muscle Nerve
; 43(1): 26-30, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21171094
6.
Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.
J Clin Med
; 9(5)2020 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32384747
7.
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
PLoS Genet
; 2(10): e175, 2006 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-17054399
8.
Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance.
Orphanet J Rare Dis
; 14(1): 42, 2019 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30760283
9.
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
Eur J Hum Genet
; 23(8): 1010-8, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25351778
10.
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
Eur J Hum Genet
; 21(8): 855-63, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23299919
11.
Metaphyseal chondrodysplasia with cone-shaped epiphyses: a specific form involving the lower limbs.
Am J Med Genet A
; 124A(1): 60-6, 2004 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-14679588
12.
Early onset brain tumor and lymphoma in MSH2-deficient children.
Am J Hum Genet
; 72(1): 213-6, 2003 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-12549480