Detalhe da pesquisa
1.
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
Neurogenetics
; 22(1): 19-25, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32816121
2.
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.
Am J Med Genet A
; 176(5): 1166-1174, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681106
3.
Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.
Am J Med Genet A
; 161A(7): 1750-4, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23696273
4.
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.
Am J Med Genet A
; 161A(11): 2894-901, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24124115
5.
Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.
Am J Med Genet A
; 161A(2): 273-84, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23322667
6.
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.
Genes (Basel)
; 14(8)2023 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628577
7.
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia.
Am J Med Genet A
; 158A(9): 2245-9, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22807161
8.
Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: Recommendations for clinical management.
Appl Neuropsychol Child
; 6(4): 327-334, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27267212
9.
Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation.
Am J Med Genet A
; 155A(2): 332-6, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21271649
10.
Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease.
PLoS One
; 9(1): e87771, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24489960
11.
Multiple sulfatase deficiency with neonatal manifestation.
Ital J Pediatr
; 40: 86, 2014 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-25516103
12.
Complex cranio-vertebral malformation: disruption sequence or iniencephaly?
Clin Dysmorphol
; 27(3): 105-108, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29494358