Sukalo, Maja: search on Z-Library

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1

Clinical utility gene card for: Johanson–Blizzard syndrome

Sukalo, Maja, Mayerle, Julia, Zenker, Martin

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 161 KB

english, 2014

2

Johanson–Blizzard syndrome: Hepatic and hematological features with novel genotype

Singh, Ankur, Chaudhary, Neha, Dhingra, Dhulika, Sukalo, Maja, Zenker, Martin, Kapoor, Seema

Journal:

Indian Journal of Gastroenterology

Year:

2014

Language:

english

File:

PDF, 212 KB

english, 2014

3

Adams–Oliver syndrome caused by mutations of the EOGT gene

Schröder, Kim C., Duman, Duygu, Tekin, Mustafa, Schanze, Denny, Sukalo, Maja, Meester, Josephina, Wuyts, Wim, Zenker, Martin

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.23 MB

english, 2019

4

Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum

Sukalo, Maja, Fiedler, Ariane, Guzmán, Celina, Spranger, Stephanie, Addor, Marie-Claude, Mcheik, Jiad N., Oltra Benavent, Manuel, Cobben, Jan M., Gillis, Lynette A., Shealy, Amy G., Deshpande, Charu,

Journal:

Year:

2014

Language:

english

File:

PDF, 557 KB

english, 2014

5

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies

Sukalo, Maja, Tilsen, Felix, Kayserili, Hülya, Müller, Dietmar, Tüysüz, Beyhan, Ruddy, Deborah M., Wakeling, Emma, Ørstavik, Karen Helene, Bramswig, Nuria C., Snape, Katie M., Trembath, Richard, De Sm

Journal:

Year:

2015

Language:

english

File:

PDF, 86 KB

english, 2015

6

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 analysis

Sukalo, Maja, Schäflein, Eva, Schanze, Ina, Everman, David B., Rezaei, Nima, Argente, Jesús, Lorda-Sanchez, Isabel, Deshpande, Charu, Takahashi, Tsutomu, Kleger, Alexander, Zenker, Martin

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 1.21 MB

english, 2017

7

Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome

Hwang, Cheol-Sang, Sukalo, Maja, Batygin, Olga, Addor, Marie-Claude, Brunner, Han, Aytes, Antonio Perez, Mayerle, Julia, Song, Hyun Kyu, Varshavsky, Alexander, Zenker, Martin, Nordheim, Alfred

Journal:

Year:

2011

Language:

english

File:

PDF, 773 KB

english, 2011

8

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies

Sukalo, Maja, Tilsen, Felix, Kayserili, Hülya, Müller, Dietmar, Tüysüz, Beyhan, Ruddy, Deborah M., Wakeling, Emma, Ørstavik, Karen Helene, Snape, Katie M., Trembath, Richard, De Smedt, Maryse, van der

Journal:

Year:

2015

Language:

english

File:

PDF, 967 KB

english, 2015

9

Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation

Atik, Tahir, Karakoyun, Miray, Sukalo, Maja, Zenker, Martin, Ozkinay, Ferda, Aydoğdu, Sema

Journal:

Year:

2015

Language:

english

File:

PDF, 389 KB

english, 2015

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