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Katrin Koehler

Showing results (31-40 of 46) with videos related to

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Human Mutation|August 10, 2005
Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contracturesAngela M Kaindl, Sibylle Jakubiczka, Thomas Lücke, et al.
Molecular and Cellular Biology|February 16, 2006
Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndromeAngela Huebner, Philipp Mann, Elvira Rohde, et al.
Journal of Medical Genetics|November 28, 2017
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutationsHirohito Shima, Katrin Koehler, Yumiko Nomura, et al.
Frontiers in Endocrinology|October 10, 2024
Very early and severe presentation of Triple A syndrome - case report and review of the literatureMaja Cehic, Katarina Mitrovic, Rade Vukovic, et al.
Journal of the Endocrine Society|May 20, 2022
<i>CYP21A2</i> Gene Expression in a Humanized 21-Hydroxylase Mouse Model Does Not Affect Adrenocortical Morphology and FunctionTina Schubert, Nicole Reisch, Ronald Naumann, et al.
Journal of Medical Genetics|October 7, 2016
A novel <i>TRAPPC11</i> mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrimaKatrin Koehler, Miroslav P Milev, Keshika Prematilake, et al.
Frontiers in Endocrinology|September 8, 2025
Insights into genetic and clinical profiles of triple A syndrome in Sudanese childrenSalwa A Musa, Mohamed A Abdullah, Samar S Hassan, et al.
American Journal of Human Genetics|June 2, 2005
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathyMatthias Vorgerd, Peter F M van der Ven, Vera Bruchertseifer, et al.
Clinical Endocrinology|May 1, 2007
Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromesCatherine E Keegan, Janna E Hutz, Andrea S Krause, et al.
Endocrine Connections|November 29, 2017
Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literatureHiren Patt, Katrin Koehler, Sailesh Lodha, et al.
Pageof 5

Showing results (31-40 of 46) with videos related to

Sort By:
Pageof 5
Human Mutation|August 10, 2005
Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contracturesAngela M Kaindl, Sibylle Jakubiczka, Thomas Lücke, et al.
Molecular and Cellular Biology|February 16, 2006
Mice lacking the nuclear pore complex protein ALADIN show female infertility but fail to develop a phenotype resembling human triple A syndromeAngela Huebner, Philipp Mann, Elvira Rohde, et al.
Journal of Medical Genetics|November 28, 2017
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutationsHirohito Shima, Katrin Koehler, Yumiko Nomura, et al.
Frontiers in Endocrinology|October 10, 2024
Very early and severe presentation of Triple A syndrome - case report and review of the literatureMaja Cehic, Katarina Mitrovic, Rade Vukovic, et al.
Journal of the Endocrine Society|May 20, 2022
<i>CYP21A2</i> Gene Expression in a Humanized 21-Hydroxylase Mouse Model Does Not Affect Adrenocortical Morphology and FunctionTina Schubert, Nicole Reisch, Ronald Naumann, et al.
Journal of Medical Genetics|October 7, 2016
A novel <i>TRAPPC11</i> mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrimaKatrin Koehler, Miroslav P Milev, Keshika Prematilake, et al.
Frontiers in Endocrinology|September 8, 2025
Insights into genetic and clinical profiles of triple A syndrome in Sudanese childrenSalwa A Musa, Mohamed A Abdullah, Samar S Hassan, et al.
American Journal of Human Genetics|June 2, 2005
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathyMatthias Vorgerd, Peter F M van der Ven, Vera Bruchertseifer, et al.
Clinical Endocrinology|May 1, 2007
Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromesCatherine E Keegan, Janna E Hutz, Andrea S Krause, et al.
Endocrine Connections|November 29, 2017
Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literatureHiren Patt, Katrin Koehler, Sailesh Lodha, et al.
Pageof 5