Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Holger Thiele

Mutations in ABCD4 Cause a New Inborn Error of Vitamin B12 Metabolism

Nature Genetics

English

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

American Journal of Human Genetics

English

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability

American Journal of Human Genetics

English

Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

American Journal of Human Genetics

English

Biallelic Mutations in ADPRHL2 , Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

American Journal of Human Genetics

English

Intra-Aortic Balloon Counterpulsation and Infarct Size in Patients With Acute Anterior Myocardial Infarction Without Shock

JAMA - Journal of the American Medical Association

English

Dysfunction of the MDM2/p53 Axis Is Linked to Premature Aging

Journal of Clinical Investigation

English

Prevalence and Long-Term Prognostic Impact of Malignancy in Patients With Takotsubo Syndrome

European Journal of Heart Failure

Cardiovascular Medicine

English

Six-Month Outcome After Transcatheter Edge-To-Edge Repair of Severe Tricuspid Regurgitation in Patients With Heart Failure

European Journal of Heart Failure

Cardiovascular Medicine

English

The Mutational Landscape of Burkitt-Like Lymphoma With 11q Aberration Is Distinct From That of Burkitt Lymphoma

English