Detalhe da pesquisa
1.
The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.
Am J Hum Genet
; 101(4): 564-577, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965845
2.
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
J Med Genet
; 56(10): 701-710, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31451536
3.
Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy.
BMC Neurol
; 12: 108, 2012 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-23009600
4.
Phenotypic manifestations in FLNA-related periventricular nodular heterotopia: a case report and review of the literature.
BMJ Case Rep
; 15(4)2022 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35414575
5.
A three-generation family with idiopathic facial palsy suggesting an autosomal dominant inheritance with high penetrance.
Case Rep Otolaryngol
; 2015: 683938, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25685580
6.
[From intellectual disability to new treatment modalities of fragile X syndrome]. / Fra mental retardering til målrettet behandling ved fragilt X-syndrom.
Ugeskr Laeger
; 176(9A): V06130350, 2014 Feb 24.
Artigo
em Dinamarquês
| MEDLINE | ID: mdl-25350408
7.
[Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders]. / Anlægsbærere for fragilt X-syndrom kan udvise et bredt spektrum af kliniske manifestationer
Ugeskr Laeger
; 176(26): V02140099, 2014 Jun 23.
Artigo
em Dinamarquês
| MEDLINE | ID: mdl-25294575
8.
De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.
Eur J Med Genet
; 55(8-9): 490-7, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22561202