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De Novo Truncating Variants in ASXL2 Are Associated with ...Cell
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von V Shashi · · Zitiert von: 13 — Goldstein, and Fanny Kortüm. (The American Journal of Human Genetics 99, 991–999; October 6, 2016). In the originally published version of this article, Table ...
Author Info | PLOS ONEPLOS
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Fanny Kortüm. Affiliation Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Frederike Leonie Harms. Affiliation ...
Prevalence and clinical prediction of mitochondrial ...Wiley Online Library
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von AT van der Ven · · Zitiert von: 5 — ... Fanny Kortüm,. Fanny Kortüm. Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Search for more papers ...
UKE - Scientist - Fanny Kortüm
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NettetFanny Kortüm Research fellow Working area Center for Obstetrics and Pediatrics; Institute of Human Genetics ; Contact Phone +49 (0) Telefax +49 (0) …
UKE - Scientist - Fanny Kortüm
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ウェブFanny Kortüm Research fellow Working area Center for Obstetrics and Pediatrics Institute of Human Genetics Contact Phone +49 (0) Telefax +49 (0) …
Fanny Kortüm - Publications | UKE Research Portal
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NettetFanny Kortüm. graph of relations. Affiliations. Institute of Human Genetics; out of 39 Page size: ; 100; 150; 250; 500; Sort by: Publication date. Publication date; Title; …
Fanny Kortüm | UKE Research Portal
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NettetFanny Kortüm. graph of relations. Affiliations. Institute of Human Genetics; Publications. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric …
Mutations in PIGU Impair the Function of the GPI ...
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ウェブ American journal of human genetics Authors: Alexej Knaus, Fanny Kortüm, Tjitske Kleefstra, Asbjørg Stray-Pedersen, Dejan Äukić, Yoshiko Murakami, Thorsten ...
Acute Liver Failure Meets SOPH Syndrome: A Case Report ...AAP
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von F Kortüm · · Zitiert von: 37 — Fanny Kortüm, PhD;. Fanny Kortüm, PhD. aInstitute of Human Genetics and. Search for other works by this author on: This Site · PubMed · Google ...
Bi-allelic ACBD6 variants lead to a neurodevelopmental ...Oxford Academic
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von R Kaiyrzhanov · — Fanny Kortüm ,. Fanny Kortüm. Institute of Human Genetics, University Medical Center Hamburg-Eppendorf. Hamburg. ,. Germany. Search ...
De Novo Truncating Variants in ASXL2 Are Associated with a ...
www.academia.edu
... Mitja I. Kurki, Alexander Hoischen, Anna C. Need, David B. Goldstein, and Fanny Kortüm (The American Journal of Human Genetics 99, 991–999; October 6, ... › De_N...
De Novo Mutations in SON Disrupt RNA Splicing of Genes ...Europe PMC
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von JH Kim · · Zitiert von: 99 — ... Fanny Kortüm. 23Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Find articles by Fanny Kortüm. Davor Lessel.
Heterozygous ANKRD17 loss-of-function Find an ExpertThe University of Melbourne
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... Fanny Kortuem, Maja Hempel, Jonas Denecke, Anna Lehman, Tjitske Kleefstra, Kyra E Stuurman, Martina Wilke Show all. AMERICAN JOURNAL OF HUMAN GENETICS | CELL ...
Truncating mutations in SHANK3 associated with global ...National Institutes of Health (.gov)
pubmed.ncbi.nlm.nih.gov
von FH Nia · · Zitiert von: 19 — Fanny Kortüm , Hans-Jürgen Kreienkamp. Affiliation. 1 Institute for Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. PMID ...
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