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Martin Zenker

Showing results (51-60 of 338) with videos related to

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Gene|July 8, 2015
Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardationTahir Atik, Miray Karakoyun, Maja Sukalo, et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology|September 21, 2013
Johanson-Blizzard syndrome: hepatic and hematological features with novel genotypeAnkur Singh, Neha Chaudhary, Dhulika Dhingra, et al.
American Journal of Medical Genetics|September 5, 2002
Cyst-like cerebral lesions in tuberous sclerosisHans-Dieter Rott, Beate Lemcke, Martin Zenker, et al.
World Journal of Gastroenterology|November 11, 2011
Johanson-Blizzard syndromeNabeel Almashraki, Mukarram Zainuddin Abdulnabee, Maja Sukalo, et al.
Nephron|December 18, 2018
Cubilin Single Nucleotide Polymorphism Variants are Associated with Macroangiopathy While a Matrix Metalloproteinase-9 Single Nucleotide Polymorphism Flip-Flop may Indicate Susceptibility of Diabetic Nephropathy in Type-2 Diabetic PatientsChristian Albert, Johanna Kube, Annemarie Albert, et al.
European Journal of Medical Genetics|December 11, 2012
Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disabilityIna Schanze, Denny Schanze, Carlos A Bacino, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|September 12, 2012
A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotypeSevgi Yimenicioğlu, Ayten Yakut, Kadri Karaer, et al.
Frontiers in Cellular Neuroscience|June 24, 2024
Developmental effect of RASopathy mutations on neuronal network activity on a chipEva-Maria Weiss, Debarpan Guhathakurta, Aneta Petrušková, et al.
Investigative Ophthalmology & Visual Science|November 19, 2015
Visual Pathways in Humans With Ephrin-B1 Deficiency Associated With the Cranio-Fronto-Nasal SyndromeMichael B Hoffmann, Hagen Thieme, Karin Liedecke, et al.
American Journal of Medical Genetics. Part A|September 13, 2011
Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalitiesVerena Matejas, Jutta Muscheites, Marianne Wigger, et al.
Pageof 34

Showing results (51-60 of 338) with videos related to

Sort By:
Pageof 34
Gene|July 8, 2015
Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardationTahir Atik, Miray Karakoyun, Maja Sukalo, et al.
Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology|September 21, 2013
Johanson-Blizzard syndrome: hepatic and hematological features with novel genotypeAnkur Singh, Neha Chaudhary, Dhulika Dhingra, et al.
American Journal of Medical Genetics|September 5, 2002
Cyst-like cerebral lesions in tuberous sclerosisHans-Dieter Rott, Beate Lemcke, Martin Zenker, et al.
World Journal of Gastroenterology|November 11, 2011
Johanson-Blizzard syndromeNabeel Almashraki, Mukarram Zainuddin Abdulnabee, Maja Sukalo, et al.
Nephron|December 18, 2018
Cubilin Single Nucleotide Polymorphism Variants are Associated with Macroangiopathy While a Matrix Metalloproteinase-9 Single Nucleotide Polymorphism Flip-Flop may Indicate Susceptibility of Diabetic Nephropathy in Type-2 Diabetic PatientsChristian Albert, Johanna Kube, Annemarie Albert, et al.
European Journal of Medical Genetics|December 11, 2012
Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disabilityIna Schanze, Denny Schanze, Carlos A Bacino, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|September 12, 2012
A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotypeSevgi Yimenicioğlu, Ayten Yakut, Kadri Karaer, et al.
Frontiers in Cellular Neuroscience|June 24, 2024
Developmental effect of RASopathy mutations on neuronal network activity on a chipEva-Maria Weiss, Debarpan Guhathakurta, Aneta Petrušková, et al.
Investigative Ophthalmology & Visual Science|November 19, 2015
Visual Pathways in Humans With Ephrin-B1 Deficiency Associated With the Cranio-Fronto-Nasal SyndromeMichael B Hoffmann, Hagen Thieme, Karin Liedecke, et al.
American Journal of Medical Genetics. Part A|September 13, 2011
Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalitiesVerena Matejas, Jutta Muscheites, Marianne Wigger, et al.
Pageof 34