Detalhe da pesquisa
1.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33961779
2.
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.
Am J Hum Genet
; 104(4): 749-757, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905398
3.
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Am J Med Genet A
; 188(10): 2958-2968, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904974
4.
A woman in her fifties with chronic muscle weakness. / En kvinne i 50-årene med langvarig muskelsvakhet.
Tidsskr Nor Laegeforen
; 142(1)2022 01 11.
Artigo
em Inglês, Nor
| MEDLINE | ID: mdl-35026081
5.
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Genet Med
; 21(3): 663-675, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30158690
6.
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.
Am J Med Genet A
; 179(9): 1884-1894, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31313512
7.
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
J Inherit Metab Dis
; 42(3): 553-564, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30746764
8.
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
J Med Genet
; 55(1): 28-38, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29021403
9.
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
J Allergy Clin Immunol
; 139(1): 232-245, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27577878
10.
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Am J Hum Genet
; 95(1): 96-107, 2014 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24931394
11.
Phenotypic expansion of ARSK-related mucopolysaccharidosis.
Am J Med Genet A
; 188(11): 3369-3373, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35959767
12.
Correction: A woman in her fifties with chronic muscle weakness. / Rettelse: En kvinne i 50-årene med langvarig muskelsvakhet.
Tidsskr Nor Laegeforen
; 142(2)2022 02 01.
Artigo
em Nor
| MEDLINE | ID: mdl-35107936
13.
Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome.
Am J Med Genet A
; 185(8): 2597-2601, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33979467
14.
A monoallelic UXS1 variant associated with short-limbed short stature.
Mol Genet Genomic Med
; 12(6): e2472, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38860481
15.
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
NPJ Genom Med
; 8(1): 39, 2023 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37993442
16.
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis.
Neurogenetics
; 13(2): 141-5, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22434358
17.
Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler.
Am J Med Genet A
; 173(5): 1447-1449, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371307
18.
Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.
Cold Spring Harb Mol Case Stud
; 7(6)2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34615670
19.
Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study.
Orphanet J Rare Dis
; 15(1): 342, 2020 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33287852
20.
High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study.
Orphanet J Rare Dis
; 15(1): 123, 2020 05 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32450891