Browsing Universitätsbibliographie by Author "Haack, Tobias"

Now showing items 41-60 of 77

Genetic basis of neurodevelopmental disorders in 103 Jordanian families

Laugwitz, Lucia; Sommerfeld, Julia; Sturm, Marc; Koch, Philipp A.; Hanselmann, Johannes; Kootz, Beate; Bauer, Peter; Buchert, Rebecca; Riess, Angelika; Haack, Tobias; Rieß, Olaf (2020)
Genetic diagnosis of Mendelian disorders via RNA sequencing

Haack, Tobias (2017)
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants inLARS1

Laugwitz, Lucia; Haack, Tobias (2020)
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia

Haack, Tobias (2016)
Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function

Marquetand, Justus Carl; Bender, Benjamin; Billing, Heiko; Haack, Tobias; Sánchez-Albisua, Iciar; Röben, Benjamin; Schöls, Ludger; Synofzik, Matthis Benjamin (2017)
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Riess, Angelika; Haack, Tobias; Melchinger, Esther Ursula; Burchert, Rebecca; Schwarz, Niklas; Weber, Yvonne G. (2019)
Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

Beck-Wödl, Stefanie; Grimmel, Mona; Bertrand, Miriam; Haack, Tobias (2021)
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder

Haack, Tobias (2021)
KCNC1-related disorders: new de novo variants expand the phenotypic spectrum

Park, Joohyun; Koko, Mahmoud; Hedrich, Ulrike B. S.; Grimmel, Mona; Beck-Wödl, Stefanie; Harrer, Merle; Sturm, Marc; Wolff, Markus; Lerche, Holger; Haack, Tobias (2019)
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort

Beck-Wödl, Stefanie; Kehrer, Christiane; Harzer, Klaus; Haack, Tobias; Riess, Angelika; Gröschel, Samuel; Krägeloh-Mann, Ingeborg; Böhringer, Judith (2021)
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

Haack, Tobias; Sturm, Marc; Hofbeck, Michael; Riess, Angelika; Waldmüller, Stephan (2017)
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Haack, Tobias (2017)
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

Haack, Tobias (2019)
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy

Haack, Tobias (2018)
Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum

Haack, Tobias (2018)
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease

Reich, Selina; Sturm, Marc; Traschütz, Andreas; Haack, Tobias; Schöls, Ludger; Synofzik, Matthis Benjamin (2021)
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

Haack, Tobias (2018)
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

Haack, Tobias (2017)
Novel HIVEP2 Variants in Patients with Intellectual Disability

Park, Joohyun; Grimmel, Mona; Sturm, Marc; Grasshoff, Ute; Dufke, Andreas; Kehrer, Martin; Schäferhoff, Karin; Haack, Tobias (2019)
Novel mutation points to a hot spot inCDKN1Ccausing Silver-Russell syndrome

Binder, Gerhard; Ziegler, Julian; Schweizer, Roland; Habhab, Wisam; Heinrich, Tilman; Haack, Tobias (2020)

Now showing items 41-60 of 77

Report a Publication

Help

Browse

All of DSpace
This Community

Browsing Universitätsbibliographie by Author "Haack, Tobias"

DSpace Repository

Browsing Universitätsbibliographie by Author "Haack, Tobias"

Browse

All of DSpace

This Community

My Account