Detalhe da pesquisa
1.
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Brain
; 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38386308
2.
Clinical and genetic investigation of 14 families with various forms of short stature syndromes.
Clin Genet
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38774940
3.
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
J Med Genet
; 60(1): 48-56, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34740919
4.
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Am J Hum Genet
; 107(2): 364-373, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707086
5.
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
J Med Genet
; 59(9): 878-887, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34656997
6.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet
; 104(6): 1210-1222, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079897
7.
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Am J Hum Genet
; 103(2): 305-316, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057029
8.
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy.
Clin Genet
; 100(4): 453-461, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34165204
9.
Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential.
Neuropediatrics
; 52(4): 274-283, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33791999
10.
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.
Am J Hum Genet
; 100(3): 555-561, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28257693
11.
Genetic basis of neurodevelopmental disorders in 103 Jordanian families.
Clin Genet
; 97(4): 621-627, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32056211
12.
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.
Am J Hum Genet
; 99(6): 1359-1367, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27866705
13.
Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
Genet Med
; 21(11): 2521-2531, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31092906
14.
Bain type of X-linked syndromic mental retardation in boys.
Clin Genet
; 95(6): 734-735, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30887513
15.
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.
Neurol Sci
; 39(11): 1917-1925, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30128655
16.
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
Hum Mol Genet
; 24(11): 3172-80, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25701870
17.
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.
Am J Hum Genet
; 95(5): 602-10, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439727
18.
CCDC82 frameshift mutation associated with intellectual disability, spastic paraparesis, and dysmorphic features.
Clin Genet
; 102(1): 80-81, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35373332
19.
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
PLoS Genet
; 10(5): e1004320, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24784135
20.
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Am J Hum Genet
; 92(4): 575-83, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23561846