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European Journal of Medical Genetics
|
October 21, 2006
Mild variable Noonan syndrome in a family with a novel PTPN11 mutation
Martin Zenker, Egbert Voss, André Reis
Journal of Molecular Medicine (Berlin, Germany)
|
August 4, 2009
Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier
Martin Zenker, Eduardo Machuca, Corinne Antignac
American Journal of Medical Genetics. Part A
|
February 26, 2013
High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome
Ilse Wieland, Sigrid Tinschert, Martin Zenker
Cases Journal
|
January 30, 2009
Oculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: a case report
Klaus Bumm, Martin Zenker, Alessandro Bozzato
Frontiers in Endocrinology
|
April 17, 2023
Syndromic forms of congenital hyperinsulinism
Martin Zenker, Klaus Mohnike, Katja Palm
European Journal of Human Genetics : EJHG
|
May 9, 2013
Clinical utility gene card for: Johanson-Blizzard syndrome
Maja Sukalo, Julia Mayerle, Martin Zenker
Prenatal Diagnosis
|
February 2, 2006
Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome
Karlheinz Mark, André Reis, Martin Zenker
American Journal of Medical Genetics. Part A
|
December 10, 2014
Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation
Kadri Karaer, Christina Lissewski, Martin Zenker
European Journal of Medical Genetics
|
May 7, 2009
Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence
Monika Koudova, Eva Seemanova, Martin Zenker
Best Practice & Research. Clinical Endocrinology & Metabolism
|
March 15, 2011
Noonan syndrome and clinically related disorders
Marco Tartaglia, Bruce D Gelb, Martin Zenker
Page
of 34
Search research articles
Search
Showing results (11-20 of 338) with videos related to
Sort By:
Page
of 34
European Journal of Medical Genetics
|
October 21, 2006
Mild variable Noonan syndrome in a family with a novel PTPN11 mutation
Martin Zenker, Egbert Voss, André Reis
Journal of Molecular Medicine (Berlin, Germany)
|
August 4, 2009
Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier
Martin Zenker, Eduardo Machuca, Corinne Antignac
American Journal of Medical Genetics. Part A
|
February 26, 2013
High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome
Ilse Wieland, Sigrid Tinschert, Martin Zenker
Cases Journal
|
January 30, 2009
Oculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: a case report
Klaus Bumm, Martin Zenker, Alessandro Bozzato
Frontiers in Endocrinology
|
April 17, 2023
Syndromic forms of congenital hyperinsulinism
Martin Zenker, Klaus Mohnike, Katja Palm
European Journal of Human Genetics : EJHG
|
May 9, 2013
Clinical utility gene card for: Johanson-Blizzard syndrome
Maja Sukalo, Julia Mayerle, Martin Zenker
Prenatal Diagnosis
|
February 2, 2006
Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome
Karlheinz Mark, André Reis, Martin Zenker
American Journal of Medical Genetics. Part A
|
December 10, 2014
Familial cardiofaciocutaneous syndrome in a father and a son with a novel MEK2 mutation
Kadri Karaer, Christina Lissewski, Martin Zenker
European Journal of Medical Genetics
|
May 7, 2009
Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence
Monika Koudova, Eva Seemanova, Martin Zenker
Best Practice & Research. Clinical Endocrinology & Metabolism
|
March 15, 2011
Noonan syndrome and clinically related disorders
Marco Tartaglia, Bruce D Gelb, Martin Zenker
Page
of 34