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Tobias Haack (1982-)

Facharzt

Name	Tobias Haack
Zeit	1982- (Lebensdaten)
Ort	Überlingen (Geburtsort) Deutschland
Geschlecht	männlich
Akademischer Grad bzw. Titel	Dr. med. (Ludwigs-Maximilians-Universität München) (2008)
Beruf	Facharzt (charakteristischer Beruf) Humangenetiker
Variante	Tobias B. Haack Tobias Bernd Ludwig Haack
Weitere Angaben	Habil. Fach Humangenetik an der Techn. Univ. München
Quelle	Vorlage
Datensatztyp	Person
GND-Nummer	136888232
Datensatz-ID	136888232
Beteiligt an alle anzeigen Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target Etablierung neuer Krankeitsgene bei mitochondrialen Erkrankungen Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project) Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy Variant in the PLCG2 gene may cause a phenotypic overlap of APLAID/PLAID: case series and literature review Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder Identification and characterization of a novel splice site mutation associated with glycogen storage disease type VI in two unrelated turkish families Citrin deficiency mimicking mitochondrial depletion syndrome Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing Wirkung von Kreatin auf Neurodegeneration und Alterung Wirkung von Kreatin auf Neurodegeneration und Alterung

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Katalog der Deutschen Nationalbibliothek

Tobias Haack (1982-)

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Multiomic ALS signatures highlight subclusters and sex differences suggesting the MAPK pathway as therapeutic target

Etablierung neuer Krankeitsgene bei mitochondrialen Erkrankungen

Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project)

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy

Variant in the PLCG2 gene may cause a phenotypic overlap of APLAID/PLAID: case series and literature review

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder

Identification and characterization of a novel splice site mutation associated with glycogen storage disease type VI in two unrelated turkish families

Citrin deficiency mimicking mitochondrial depletion syndrome

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Wirkung von Kreatin auf Neurodegeneration und Alterung

Wirkung von Kreatin auf Neurodegeneration und Alterung