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Medientyp
- Text 12
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Erscheinungsjahr
Autor/in
- Rau, Isabella
- Gal, Andreas 4
- Kutsche, Kerstin 4
- Kloth, Katja 2
- Orth, Ulrike 2
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12 Einträge gefunden
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Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2
2021 - Forschungsinformationssystem des UKE -
Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2
2020 - Forschungsinformationssystem des UKE - frei zugänglich -
Oligosymptomatic adrenomyeloneuropathy due to a novel mutation in the ABCD1 start codon
2016 - Forschungsinformationssystem des UKE -
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, Vanessa A
- Rau, Isabella
- Fuchs, Sigrid
- Kosyna, Friederike K
- de Almeida, Hiram Larangeira
- Fryssira, Helen
- Isidor, Bertrand
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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, Raul E
- Zaragoza-Arévalo, Gerardo R
- Rau, Isabella
- Gal, Andreas
- Alcántara-Ortigoza, Miguel A
- López-Martínez, Mónica S
- Santillán-Hernández, Yuritzi
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Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation.
2012 - Forschungsinformationssystem des UKE -
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Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.
- Langmann, Thomas
- Gioia, Di
- Rau, Isabella
- Rau, Isabella
- Maksimovic, Nela S.
- Maksimovic, Nela S
- Corbo, Joseph C
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Phenotypes of female adrenoleukodystrophy.
2007 - Forschungsinformationssystem des UKE -
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