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Steffen Uebe

Showing results (31-40 of 88) with videos related to

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Orphanet Journal of Rare Diseases|August 4, 2016
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucomaLucia Mauri, Steffen Uebe, Heinrich Sticht, et al.
International Journal of Cancer|September 13, 2016
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2Cornelia Kraus, Juliane Hoyer, Georgia Vasileiou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2019
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotoniaZafar Iqbal, Hasan Tawamie, Wei Ba, et al.
Neuroscience Letters|January 29, 2010
Lack of genetic association of neutral endopeptidase (NEP) with complex regional pain syndrome (CRPS)Kathrin Huehne, Ute Schaal, Stefan Leis, et al.
BMC Cancer|September 28, 2018
Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteriaJuliane Hoyer, Georgia Vasileiou, Steffen Uebe, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Biallelic SEMA3A defects cause a novel type of syndromic short statureKristin Hofmann, Markus Zweier, Heinrich Sticht, et al.
Journal of Autoimmunity|February 6, 2018
T cells are influenced by a long non-coding RNA in the autoimmune associated PTPN2 locusMiranda Houtman, Klementy Shchetynsky, Karine Chemin, et al.
European Journal of Human Genetics : EJHG|September 13, 2022
Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease studyBernt Popp, Arif B Ekici, Karl X Knaup, et al.
American Journal of Medical Genetics. Part A|September 17, 2021
Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome)Katalin L M L Hetzelt, Martin Winterholler, Frank Kerling, et al.
American Journal of Human Genetics|June 11, 2013
De novo mutations in the genome organizer CTCF cause intellectual disabilityAnne Gregor, Martin Oti, Evelyn N Kouwenhoven, et al.
Pageof 9

Showing results (31-40 of 88) with videos related to

Sort By:
Pageof 9
Orphanet Journal of Rare Diseases|August 4, 2016
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucomaLucia Mauri, Steffen Uebe, Heinrich Sticht, et al.
International Journal of Cancer|September 13, 2016
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2Cornelia Kraus, Juliane Hoyer, Georgia Vasileiou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2019
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotoniaZafar Iqbal, Hasan Tawamie, Wei Ba, et al.
Neuroscience Letters|January 29, 2010
Lack of genetic association of neutral endopeptidase (NEP) with complex regional pain syndrome (CRPS)Kathrin Huehne, Ute Schaal, Stefan Leis, et al.
BMC Cancer|September 28, 2018
Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteriaJuliane Hoyer, Georgia Vasileiou, Steffen Uebe, et al.
American Journal of Medical Genetics. Part A|October 15, 2013
Biallelic SEMA3A defects cause a novel type of syndromic short statureKristin Hofmann, Markus Zweier, Heinrich Sticht, et al.
Journal of Autoimmunity|February 6, 2018
T cells are influenced by a long non-coding RNA in the autoimmune associated PTPN2 locusMiranda Houtman, Klementy Shchetynsky, Karine Chemin, et al.
European Journal of Human Genetics : EJHG|September 13, 2022
Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease studyBernt Popp, Arif B Ekici, Karl X Knaup, et al.
American Journal of Medical Genetics. Part A|September 17, 2021
Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome)Katalin L M L Hetzelt, Martin Winterholler, Frank Kerling, et al.
American Journal of Human Genetics|June 11, 2013
De novo mutations in the genome organizer CTCF cause intellectual disabilityAnne Gregor, Martin Oti, Evelyn N Kouwenhoven, et al.
Pageof 9