Search details
1.
The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies.
Hum Mol Genet
; 31(14): 2295-2306, 2022 07 21.
Article
in English
| MEDLINE | ID: mdl-35137054
2.
Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular event.
Am J Med Genet A
; 191(10): 2656-2663, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37466007
3.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genet Med
; 24(1): 179-191, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34906456
4.
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
Genet Med
; 23(2): 341-351, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33024317
5.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Genet Med
; 23(2): 384-395, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33173220
6.
Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report.
BMC Med Genet
; 21(1): 153, 2020 07 22.
Article
in English
| MEDLINE | ID: mdl-32698785
7.
Genetics of intellectual disability in consanguineous families.
Mol Psychiatry
; 24(7): 1027-1039, 2019 07.
Article
in English
| MEDLINE | ID: mdl-29302074
8.
[Molecular and functional testing in case of hereditary hearing loss associated with the SLC26A4 gene]. / Molekulare und funktionale Abklärung hereditärer Schwerhörigkeiten am Beispiel des SLC26A4-Gens.
Laryngorhinootologie
; 99(12): 853-862, 2020 12.
Article
in German
| MEDLINE | ID: mdl-33307573
9.
CAD mutations and uridine-responsive epileptic encephalopathy.
Brain
; 140(2): 279-286, 2017 02.
Article
in English
| MEDLINE | ID: mdl-28007989
10.
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Hum Genet
; 136(3): 307-320, 2017 03.
Article
in English
| MEDLINE | ID: mdl-28120103
11.
Phenotypes and genotypes in individuals with SMC1A variants.
Am J Med Genet A
; 173(8): 2108-2125, 2017 Aug.
Article
in English
| MEDLINE | ID: mdl-28548707
12.
Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.
Am J Med Genet C Semin Med Genet
; 166C(3): 290-301, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-25099957
13.
A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.
Orphanet J Rare Dis
; 17(1): 279, 2022 07 19.
Article
in English
| MEDLINE | ID: mdl-35854315
14.
Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.
Sci Adv
; 8(3): eabk0114, 2022 01 21.
Article
in English
| MEDLINE | ID: mdl-35044816
15.
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.
Genes (Basel)
; 13(1)2022 01 15.
Article
in English
| MEDLINE | ID: mdl-35052493
16.
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.
BMC Med Genet
; 12: 106, 2011 Aug 09.
Article
in English
| MEDLINE | ID: mdl-21827697
17.
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
Eur J Hum Genet
; 25(2): 183-191, 2017 02.
Article
in English
| MEDLINE | ID: mdl-27901041
18.
MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.
Eur J Med Genet
; 59(8): 386-91, 2016 Aug.
Article
in English
| MEDLINE | ID: mdl-27377014
19.
X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.
Invest Ophthalmol Vis Sci
; 44(4): 1458-63, 2003 Apr.
Article
in English
| MEDLINE | ID: mdl-12657579
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