Detalhe da pesquisa
1.
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
Genet Med
; 24(10): 2187-2193, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35962790
2.
Protocol of the Luebeck longitudinal investigation of SARS-CoV-2 infection (ELISA) study - a prospective population-based cohort study.
BMC Public Health
; 22(1): 1305, 2022 07 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35799167
3.
ANKRD11 variants: KBG syndrome and beyond.
Clin Genet
; 100(2): 187-200, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33955014
4.
Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.
PLoS Genet
; 14(12): e1007866, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30586382
5.
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Genet Med
; 22(3): 598-609, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31700164
6.
Genetics of intellectual disability in consanguineous families.
Mol Psychiatry
; 24(7): 1027-1039, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29302074
7.
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
Hum Mol Genet
; 26(6): 1078-1086, 2017 03 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28087732
8.
Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
J Med Genet
; 55(12): 837-846, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30323018
9.
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.
Am J Hum Genet
; 97(4): 521-34, 2015 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26365339
10.
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Am J Hum Genet
; 96(5): 816-25, 2015 May 07.
Artigo
Inglês
| MEDLINE | ID: mdl-25865493
11.
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
Genet Med
; 25(5): 100799, 2023 May.
Artigo
Inglês
| MEDLINE | ID: mdl-36853234
12.
A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.
J Hum Genet
; 63(9): 997-1001, 2018 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-29899504
13.
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
Nature
; 489(7415): 313-7, 2012 Sep 13.
Artigo
Inglês
| MEDLINE | ID: mdl-22885700
14.
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.
Hum Mutat
; 38(8): 942-946, 2017 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28493397
15.
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.
Hum Mol Genet
; 24(20): 5697-710, 2015 Oct 15.
Artigo
Inglês
| MEDLINE | ID: mdl-26206890
16.
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Hum Genet
; 136(3): 307-320, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28120103
17.
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
Am J Hum Genet
; 95(5): 622-32, 2014 Nov 06.
Artigo
Inglês
| MEDLINE | ID: mdl-25439729
18.
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Am J Hum Genet
; 95(3): 285-93, 2014 Sep 04.
Artigo
Inglês
| MEDLINE | ID: mdl-25152457
19.
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Am J Hum Genet
; 95(6): 763-70, 2014 Dec 04.
Artigo
Inglês
| MEDLINE | ID: mdl-25480037
20.
Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases.
J Pediatr
; 181: 306-308.e1, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27931826