Volume 59; Issue 6-7

European Journal of Medical Genetics

Volume 59; Issue 6-7

1

Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome

Kharbanda, Mira, Kannike, Kaja, Lampe, Anne, Berg, Jonathan, Timmusk, Tõnis, Sepp, Mari

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 477 KB

english, 2016

2

Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss

Bakhchane, Amina, Bousfiha, Amale, Charoute, Hicham, Salime, Sara, Detsouli, Mustapha, Snoussi, Khalid, Nadifi, Sellama, Kabine, Mostafa, Rouba, Hassan, Dehbi, Hind, Roky, Rachida, Charif, Majida, Bar

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 494 KB

english, 2016

3

Angelman syndrome in Hong Kong Chinese: A 20 years’ experience

Luk, H.M., Lo, Ivan F.M.

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 460 KB

english, 2016

4

A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13

Barøy, Tuva, Pedurupillay, Christeen Ramane J., Bliksrud, Yngve T., Rasmussen, Magnhild, Holmgren, Asbjørn, Vigeland, Magnus D., Hughes, Timothy, Brink, Maaike, Rodenburg, Richard, Nedregaard, Bård, S

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 888 KB

english, 2016

5

Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China

Yi, Zhi, Pan, Hong, Li, Lin, Wu, Hairong, Wang, Songtao, Ma, Yinan, Qi, Yu

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 741 KB

english, 2016

6

A template for broad consent in biobank research. Results and explanation of an evidence and consensus-based development process

Strech, D., Bein, S., Brumhard, M., Eisenmenger, W., Glinicke, C., Herbst, T., Jahns, R., von Kielmansegg, S., Schmidt, G., Taupitz, J., Tröger, H.D.

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 276 KB

english, 2016

7

A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia

Rafati, Maryam, Mohamadhashem, Faezeh, Hoseini, Azadeh, Hoseininasab, Fatemeh, Ghaffari, Saeed Reza

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 1.29 MB

english, 2016

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