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1.
Identification of a novel variant of FOXP3 resulting in severe immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome highlights potential pitfalls of molecular testing.
Pediatr Dermatol
; 39(3): 483-485, 2022 May.
Article
in English
| MEDLINE | ID: mdl-35191551
2.
Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low-level mosaicism for trisomy 14.
Am J Med Genet A
; 185(5): 1538-1543, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33595182
3.
A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.
J Med Genet
; 55(1): 48-54, 2018 01.
Article
in English
| MEDLINE | ID: mdl-28626029
4.
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.
J Med Genet
; 54(6): 399-403, 2017 06.
Article
in English
| MEDLINE | ID: mdl-28280135
5.
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.
Ann Neurol
; 80(1): 59-70, 2016 07.
Article
in English
| MEDLINE | ID: mdl-27130255
6.
Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered.
Mol Genet Metab
; 103(4): 362-6, 2011 Aug.
Article
in English
| MEDLINE | ID: mdl-21605996
7.
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Genome Med
; 13(1): 63, 2021 04 19.
Article
in English
| MEDLINE | ID: mdl-33874999
8.
A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma.
Hum Genome Var
; 7(1): 39, 2020 Nov 19.
Article
in English
| MEDLINE | ID: mdl-33298910
9.
Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder.
Eur J Med Genet
; 59(9): 470-3, 2016 Sep.
Article
in English
| MEDLINE | ID: mdl-27238888
10.
Chromosomal microarray in prenatal diagnosis: case studies and clinical challenges.
Per Med
; 13(3): 249-255, 2016 May.
Article
in English
| MEDLINE | ID: mdl-29767605
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