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1.
Magnetic resonance imaging diagnosis of a skeletal dysplasia mimicking erosive arthropathy.
Pediatr Radiol
; 51(9): 1758-1761, 2021 Aug.
Article
in English
| MEDLINE | ID: mdl-33710406
2.
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Am J Hum Genet
; 96(3): 498-506, 2015 Mar 05.
Article
in English
| MEDLINE | ID: mdl-25728775
3.
RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.
Am J Med Genet A
; 170(6): 1450-4, 2016 06.
Article
in English
| MEDLINE | ID: mdl-26969842
4.
Expanding the clinical and genetic spectrum of PCYT2-related disorders.
Brain
; 143(9): e76, 2020 09 01.
Article
in English
| MEDLINE | ID: mdl-32889549
5.
Persistent hyperkalemia in an otherwise healthy 4-month-old female: Questions.
Pediatr Nephrol
; 35(11): 2097-2098, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32337636
6.
Persistent hyperkalemia in an otherwise healthy 4-month-old female: Answers.
Pediatr Nephrol
; 35(11): 2099-2100, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32337639
7.
The Perfect Storm: A Case of Rapid-Onset Obesity With Hypoventilation, Hypothalamic, Autonomic Dysregulation, Neuroendocrine Tumor (ROHHADNET) With Heart Failure, Narcolepsy, and a Rare Location of a Pelvic Neuroendocrine Tumor.
Cureus
; 15(12): e50341, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-38205461
8.
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
medRxiv
; 2023 Jun 16.
Article
in English
| MEDLINE | ID: mdl-37398376
9.
Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.
Mol Genet Genomic Med
; 6(6): 1229-1235, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30187681
10.
Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome.
Case Rep Genet
; 2017: 7263780, 2017.
Article
in English
| MEDLINE | ID: mdl-28163941
11.
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
JAMA Neurol
; 73(7): 836-845, 2016 07 01.
Article
in English
| MEDLINE | ID: mdl-27159400
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