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Martin Zenker

Showing results (81-90 of 338) with videos related to

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Frontiers in Endocrinology|November 7, 2022
Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinismIlse Wieland, Ina Schanze, Ina Marianti Felgendreher, et al.
Pediatric Endocrinology Reviews : PER|May 17, 2017
Surgery in Focal Congenital Hyperinsulinism (CHI) - The "Hyperinsulinism Germany International" Experience in 30 ChildrenWinfried Barthlen, Emine Varol, Susann Empting, et al.
Pediatric Research|January 8, 2009
SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndromeMiroslav Zivicnjak, Doris Franke, Martin Zenker, et al.
American Journal of Medical Genetics. Part A|September 18, 2009
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorderJennifer Haensel, Nicolai Kohlschmidt, Susanne Pitz, et al.
American Journal of Human Genetics|February 28, 2004
A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcriptsMartin Zenker, Anita Rauch, Andreas Winterpacht, et al.
Molecular and Cellular Pediatrics|April 21, 2026
Diagnoses of double heterozygous NF1 variants and dual RASopathyDaniela Angelova-Toshkina, Denny Schanze, Pia Vaassen, et al.
Alcoholism, Clinical and Experimental Research|February 6, 2021
Estimated Prevalence of Harmful Alcohol Consumption in Pregnant and Nonpregnant Women in Saxony-Anhalt (NorthEast Germany) Using BiomarkersJakob Adler, Anke Rissmann, Siegfried Kropf, et al.
American Journal of Medical Genetics. Part A|May 19, 2009
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndromeChristian Thiel, Martin Wilken, Martin Zenker, et al.
Hormone Research in Paediatrics|January 10, 2014
Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinismKlaus Mohnike, Ilse Wieland, Winfried Barthlen, et al.
Journal of Medical Genetics|April 9, 2016
Germline <i>RRAS2</i> mutations are not associated with Noonan syndromeJohn J Ceremsak, Ariel Yu, Emilio Esquivel, et al.
Pageof 34

Showing results (81-90 of 338) with videos related to

Sort By:
Pageof 34
Frontiers in Endocrinology|November 7, 2022
Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinismIlse Wieland, Ina Schanze, Ina Marianti Felgendreher, et al.
Pediatric Endocrinology Reviews : PER|May 17, 2017
Surgery in Focal Congenital Hyperinsulinism (CHI) - The "Hyperinsulinism Germany International" Experience in 30 ChildrenWinfried Barthlen, Emine Varol, Susann Empting, et al.
Pediatric Research|January 8, 2009
SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndromeMiroslav Zivicnjak, Doris Franke, Martin Zenker, et al.
American Journal of Medical Genetics. Part A|September 18, 2009
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorderJennifer Haensel, Nicolai Kohlschmidt, Susanne Pitz, et al.
American Journal of Human Genetics|February 28, 2004
A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcriptsMartin Zenker, Anita Rauch, Andreas Winterpacht, et al.
Molecular and Cellular Pediatrics|April 21, 2026
Diagnoses of double heterozygous NF1 variants and dual RASopathyDaniela Angelova-Toshkina, Denny Schanze, Pia Vaassen, et al.
Alcoholism, Clinical and Experimental Research|February 6, 2021
Estimated Prevalence of Harmful Alcohol Consumption in Pregnant and Nonpregnant Women in Saxony-Anhalt (NorthEast Germany) Using BiomarkersJakob Adler, Anke Rissmann, Siegfried Kropf, et al.
American Journal of Medical Genetics. Part A|May 19, 2009
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndromeChristian Thiel, Martin Wilken, Martin Zenker, et al.
Hormone Research in Paediatrics|January 10, 2014
Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinismKlaus Mohnike, Ilse Wieland, Winfried Barthlen, et al.
Journal of Medical Genetics|April 9, 2016
Germline <i>RRAS2</i> mutations are not associated with Noonan syndromeJohn J Ceremsak, Ariel Yu, Emilio Esquivel, et al.
Pageof 34