Detalhe da pesquisa
1.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Brain
; 143(8): 2437-2453, 2020 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32761064
2.
Phenotype delineation of ZNF462 related syndrome.
Am J Med Genet A
; 179(10): 2075-2082, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31361404
3.
STAR syndrome plus: The first description of a female patient with the lethal form.
Am J Med Genet A
; 173(12): 3226-3230, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-29088509
4.
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation.
Cytogenet Genome Res
; 150(1): 23-28, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27915340
5.
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.
Genet Med
; 12(7): 431-9, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-20531206
6.
(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome.
Mol Genet Genomic Med
; 8(9): e1386, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32627967
7.
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.
Front Pediatr
; 8: 310, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32656166
8.
Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum.
J Child Neurol
; 32(1): 60-71, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27683483
9.
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
BMC Med Genet
; 7: 77, 2006 Oct 19.
Artigo
Inglês
| MEDLINE | ID: mdl-17052327
10.
Recurrence of a severe multiple congenital anomaly syndrome characterized by micrognathia, microtia, cleft palate, and short neck in two siblings.
Clin Dysmorphol
; 18(1): 45-48, 2009 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19050404