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J Loeffen

Showing results (11-20 of 17) with videos related to

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British Journal of Cancer|December 14, 2016
Childhood neuroendocrine tumours: a descriptive study revealing clues for genetic predispositionI J Diets, I D Nagtegaal, J Loeffen, et al.
Annals of Neurology|February 28, 2001
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathyJ Loeffen, O Elpeleg, J Smeitink, et al.
American Journal of Human Genetics|December 5, 1998
The first nuclear-encoded complex I mutation in a patient with Leigh syndromeJ Loeffen, J Smeitink, R Triepels, et al.
American Journal of Human Genetics|April 16, 1998
Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunitL van den Heuvel, W Ruitenbeek, R Smeets, et al.
Oncology Reports|September 23, 2014
Adrenocortical carcinoma in children: first population-based clinicopathological study with long-term follow-upT M A Kerkhofs, M H T Ettaieb, R H A Verhoeven, et al.
Journal of Medical Genetics|February 22, 2014
Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D)H F A Vasen, Z Ghorbanoghli, F Bourdeaut, et al.
Leukemia|February 16, 2017
Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsisM Ratnaparkhe, M Hlevnjak, T Kolb, et al.
Pageof 2

Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
British Journal of Cancer|December 14, 2016
Childhood neuroendocrine tumours: a descriptive study revealing clues for genetic predispositionI J Diets, I D Nagtegaal, J Loeffen, et al.
Annals of Neurology|February 28, 2001
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathyJ Loeffen, O Elpeleg, J Smeitink, et al.
American Journal of Human Genetics|December 5, 1998
The first nuclear-encoded complex I mutation in a patient with Leigh syndromeJ Loeffen, J Smeitink, R Triepels, et al.
American Journal of Human Genetics|April 16, 1998
Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunitL van den Heuvel, W Ruitenbeek, R Smeets, et al.
Oncology Reports|September 23, 2014
Adrenocortical carcinoma in children: first population-based clinicopathological study with long-term follow-upT M A Kerkhofs, M H T Ettaieb, R H A Verhoeven, et al.
Journal of Medical Genetics|February 22, 2014
Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D)H F A Vasen, Z Ghorbanoghli, F Bourdeaut, et al.
Leukemia|February 16, 2017
Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsisM Ratnaparkhe, M Hlevnjak, T Kolb, et al.
Pageof 2