Genetics, Mutation, Missense mutation, Noonan syndrome and Phenotype are his primary areas of study. Martin Zenker combines Genetics and Developmental disorder in his studies. His Mutation study combines topics in areas such as Endocrinology, Nephrotic syndrome, Internal medicine, Osteochondrodysplasia and Haploinsufficiency.
His Missense mutation research includes elements of Microcoria, Rett syndrome, Allele and Frameshift mutation. His biological study spans a wide range of topics, including RASopathy, Germline mutation, Costello syndrome, Noonan Syndrome with Multiple Lentigines and PTPN11. His Phenotype research integrates issues from Hypotonia, Genotype and Congenital nephrotic syndrome.
His scientific interests lie mostly in Genetics, Noonan syndrome, Internal medicine, Mutation and Phenotype. His Genetics study focuses mostly on Missense mutation, Gene, Genetic heterogeneity, Haploinsufficiency and Frameshift mutation. His Missense mutation research is multidisciplinary, relying on both Congenital nephrotic syndrome and Short stature.
Martin Zenker interconnects RASopathy, Germline mutation and KRAS, Costello syndrome, PTPN11 in the investigation of issues within Noonan syndrome. The concepts of his Internal medicine study are interwoven with issues in Gastroenterology, Cardiology, Endocrinology and Pathology. The study incorporates disciplines such as Osteochondrodysplasia, Exon, Molecular biology, Allele and Cell biology in addition to Mutation.
Martin Zenker mainly investigates Genetics, Noonan syndrome, Phenotype, Gene and Mutation. His work on Short stature expands to the thematically related Genetics. His Noonan syndrome study incorporates themes from RASopathy, Hypertrophic cardiomyopathy and MAPK cascade, Ras mapk signaling, MAPK/ERK pathway.
His research integrates issues of Aplasia cutis congenita, Dock6, Mutant and Germline in his study of Phenotype. His biological study spans a wide range of topics, including Pregnancy, Cancer research, Germline mutation and Somatic cell. His Mutation research focuses on Congenital hyperinsulinism and how it relates to Nuclear medicine.
Martin Zenker focuses on Noonan syndrome, Mutation, RASopathy, Gene and Cell biology. He has researched Noonan syndrome in several fields, including Medical diagnosis, Facial analysis, Machine learning and MAPK cascade, MAPK/ERK pathway. His MAPK/ERK pathway study necessitates a more in-depth grasp of Genetics.
Martin Zenker conducts interdisciplinary study in the fields of Genetics and MRAS through his research. His research in Mutation intersects with topics in Genetic analysis, Hypertrophic cardiomyopathy, Cardiology and Ubiquitin ligase. His RASopathy research incorporates themes from Medical research, Gene mutation, Intensive care medicine, Patient advocacy and Personalized medicine.
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Germline KRAS mutations cause Noonan syndrome
Suzanne Schubbert;Martin Zenker;Sara L . Rowe;Silke Böll.
Nature Genetics (2006)
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.
Anita Rauch;Juliane Hoyer;Sabine Guth;Christiane Zweier.
American Journal of Medical Genetics Part A (2006)
Human laminin β2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities
Martin Zenker;Thomas Aigner;Olaf Wendler;Tim Tralau.
Human Molecular Genetics (2004)
A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome
Carolin E. Sadowski;Svjetlana Lovric;Shazia Ashraf;Werner L. Pabst.
Journal of The American Society of Nephrology (2015)
Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).
Bernward G Hinkes;Bettina Mucha;Christopher N Vlangos;Rasheed Gbadegesin.
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Sabine Endele;Georg Rosenberger;Kirsten Geider;Bernt Popp.
Nature Genetics (2010)
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
Viviana Cordeddu;Elia Di Schiavi;Len A. Pennacchio;Len A. Pennacchio;Avi Ma’ayan.
Nature Genetics (2009)
Noonan syndrome and clinically related disorders
Marco Tartaglia;Bruce D. Gelb;Martin Zenker.
Best Practice & Research Clinical Endocrinology & Metabolism (2011)
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
Saskia F. Heeringa;Gil Chernin;Moumita Chaki;Weibin Zhou.
Journal of Clinical Investigation (2011)
Identifying facial phenotypes of genetic disorders using deep learning
Yaron Gurovich;Yair Hanani;Omri Bar;Guy Nadav.
Nature Medicine (2019)
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