Detalhe da pesquisa
1.
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Brain
; 147(1): 311-324, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37713627
2.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Brain
; 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38456468
3.
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Am J Hum Genet
; 108(6): 1095-1114, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33991472
4.
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Clin Genet
; 105(6): 620-629, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38356149
5.
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Brain
; 146(12): 5031-5043, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37517035
6.
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.
J Med Genet
; 60(8): 791-796, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36581449
7.
Construction and validation of ShaMaq developmental screening tool.
Child Care Health Dev
; 50(1): e13123, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37153970
8.
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Am J Hum Genet
; 106(4): 484-495, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32220290
9.
Preventive practices and parents' psychological health of children with disabilities after COVID-19 lockdown in Pakistan.
J Paediatr Child Health
; 59(6): 814-821, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36999958
10.
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat
; 43(3): 403-419, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34989426
11.
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Ann Neurol
; 89(4): 828-833, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443317
12.
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Hum Genomics
; 15(1): 44, 2021 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34256850
13.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(5): 1422-1434, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970200
14.
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
J Med Genet
; 58(12): 815-831, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33172956
15.
Prevalence of minor physical anomalies in children with autism spectrum disorder reporting to a tertiary care hospital Lahore-Pakistan.
Pak J Med Sci
; 38(7): 1918-1923, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36246712
16.
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genet Med
; 23(11): 2138-2149, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34244665
17.
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Am J Hum Genet
; 108(12): 2386-2388, 2021 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34861177
18.
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(8): e70, 2021 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34480796
19.
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.
Am J Med Genet A
; 185(7): 2241-2249, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33964184
20.
Severe anaemia and altered mental status in the young paediatric patient.
J Paediatr Child Health
; 57(10): 1695-1697, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33460186