Detalhe da pesquisa
1.
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.
Am J Hum Genet
; 110(7): 1068-1085, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37352860
2.
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.
Am J Hum Genet
; 107(3): 564-574, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32822602
3.
C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.
Hum Genet
; 141(8): 1423-1429, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35107634
4.
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Mov Disord
; 37(10): 2139-2146, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35876425
5.
PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
Hum Genet
; 140(6): 879-884, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33386993
6.
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
Clin Genet
; 100(5): 607-614, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34296759
7.
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.
Am J Med Genet A
; 173(3): 588-595, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28127940
8.
Familial 7q11.23 duplication with variable phenotype.
Am J Med Genet A
; 167A(11): 2727-30, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26109321
9.
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1.
Neurol Genet
; 7(6): e631, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34703884
10.
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.
Eur J Hum Genet
; 28(4): 461-468, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31695177
11.
Pycnodysostosis: Novel Variants in CTSK and Occurrence of Giant Cell Tumor.
J Pediatr Genet
; 7(1): 9-13, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29441215
12.
Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene.
J Pediatr Genet
; 6(3): 177-180, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28794911
13.
Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.
Congenit Anom (Kyoto)
; 57(3): 83-85, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27624506
14.
Novel ALOX12B Mutation Identified in Parents following Single Nucleotide Polymorphism Microarray Testing of Banked DNA from a Fatal Case of Congenital Ichthyosis.
Indian J Dermatol
; 61(1): 122, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26955140
15.
Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant.
Indian J Dermatol
; 61(6): 700, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27904205
16.
Further evidence for causation of ischiospinal dysostosis by a pathogenic variant in BMPER and expansion of the phenotype.
Congenit Anom (Kyoto)
; 59(1): 26-27, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29704261