2021

Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2
Kloth K, Neu A, Rau I, Hülsemann W, Kutsche K, Volk A
EUR J MED GENET. 2021;64(3):.

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing
Nayak S, Schneeberger P, Patil S, Arun K, Suresh P, Kiran V, Siddaiah S, Maiya S, Venkatachalagupta S, Kausthubham N, Kortüm F, Rau I, Wey-Fabrizius A, Van Den Heuvel L, Meester J, Van Laer L, Shukla A, Loeys B, Girisha K, Kutsche K
SCI REP-UK. 2021;11(1):.

2020

Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2
Kloth K, Vater I, Lindschau R, Rau I, Caliebe A, Muschol N
MOL GENET METAB REP. 2020;25:.

2019

Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients
Renner S, Schüler H, Alawi M, Kolbe V, Rybczynski M, Woitschach R, Sheikhzadeh S, Stark V, Olfe J, Roser E, Seggewies F, Mahlmann A, Hempel M, Hartmann M, Hillebrand M, Wieczorek D, Volk A, Kloth K, Koch-Hogrebe M, Abou Jamra R, Mitter D, Altmüller J, Wey-Fabrizius A, Petersen C, Rau I, Borck G, Kubisch C, Mir T, von Kodolitsch Y, Kutsche K, Rosenberger G
GENET MED. 2019;21(8):1832-1841.

2016

Oligosymptomatic adrenomyeloneuropathy due to a novel mutation in the ABCD1 start codon
Dunkl V, Rau I, Wunderlich G, Fink G, Lehmann H
J NEUROL SCI. 2016;367:81-2.

2014

Clinical spectrum of females with HCCS Mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome
van Rahden V, Rau I, Fuchs S, Kosyna F, de Almeida H, Fryssira H, Isidor B, Jauch A, Joubert M, Lachmeijer A, Zweier C, Moog U, Kutsche K
ORPHANET J RARE DIS. 2014;9(1):53.

2013

Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation.
Piña-Aguilar R, Zaragoza-Arévalo G, Rau I, Gal A, Alcántara-Ortigoza M, López-Martínez M, Santillán-Hernández Y
EUR J MED GENET. 2013;56(3):159-162.

2012

Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation.
Schänzer A, Rau I, Kress W, Köhler A, Neubauer B, Hahn A
KLIN PADIATR. 2012;224(4):256-258.

Letzte Aktualisierung aus dem FIS: 23.12.2024 - 23:36 Uhr