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Maja Sukalo

Showing results (1-10 of 14) with videos related to

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European Journal of Human Genetics : EJHG|May 9, 2013
Clinical utility gene card for: Johanson-Blizzard syndromeMaja Sukalo, Julia Mayerle, Martin Zenker
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.
World Journal of Gastroenterology|November 11, 2011
Johanson-Blizzard syndromeNabeel Almashraki, Mukarram Zainuddin Abdulnabee, Maja Sukalo, et al.
American Journal of Medical Genetics. Part A|August 2, 2019
Adams-Oliver syndrome caused by mutations of the EOGT geneKim C Schröder, Duygu Duman, Mustafa Tekin, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysisMaja Sukalo, Eva Schäflein, Ina Schanze, et al.
Plos One|September 21, 2011
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndromeCheol-Sang Hwang, Maja Sukalo, Olga Batygin, et al.
American Journal of Medical Genetics. Part A|March 19, 2016
Oblique facial clefts in Johanson-Blizzard syndromeJorge Román Corona-Rivera, Eugenio Zapata-Aldana, Lucina Bobadilla-Morales, et al.
Human Mutation|April 1, 2015
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomaliesMaja Sukalo, Felix Tilsen, Hülya Kayserili, et al.
Human Mutation|October 13, 2015
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye AnomaliesMaja Sukalo, Felix Tilsen, Hülya Kayserili, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
European Journal of Human Genetics : EJHG|May 9, 2013
Clinical utility gene card for: Johanson-Blizzard syndromeMaja Sukalo, Julia Mayerle, Martin Zenker
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.
World Journal of Gastroenterology|November 11, 2011
Johanson-Blizzard syndromeNabeel Almashraki, Mukarram Zainuddin Abdulnabee, Maja Sukalo, et al.
American Journal of Medical Genetics. Part A|August 2, 2019
Adams-Oliver syndrome caused by mutations of the EOGT geneKim C Schröder, Duygu Duman, Mustafa Tekin, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysisMaja Sukalo, Eva Schäflein, Ina Schanze, et al.
Plos One|September 21, 2011
Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndromeCheol-Sang Hwang, Maja Sukalo, Olga Batygin, et al.
American Journal of Medical Genetics. Part A|March 19, 2016
Oblique facial clefts in Johanson-Blizzard syndromeJorge Román Corona-Rivera, Eugenio Zapata-Aldana, Lucina Bobadilla-Morales, et al.
Human Mutation|April 1, 2015
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomaliesMaja Sukalo, Felix Tilsen, Hülya Kayserili, et al.
Human Mutation|October 13, 2015
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye AnomaliesMaja Sukalo, Felix Tilsen, Hülya Kayserili, et al.
Pageof 2