BCJ Hamel: search on Z-Library

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1

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia

T Kleefstra, HG Yntema, AR Oudakker, T Romein, E Sistermans, W Nillessen, H Van Bokhoven, BBA De Vries, BCJ Hamel

Journal:

Clinical Genetics

Year:

2002

Language:

english

File:

PDF, 67 KB

english, 2002

2

No justification of routine screening for 22q11 deletions in patients with overt cleft palate

EM Ruiter, EMHF Bongers, DFCM Smeets, AM Kuijpers-Jagtman, BCJ Hamel

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 69 KB

english, 2003

3

Ehlers-Danlos syndrome and type III collagen abnormalities: a variable clinical

BCJ Hamel, G. Pals, CHAM Engels, E. van den Akker, GHJ Boers, PWJ van Dongen, PM Steijlen

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 706 KB

english, 1998

4

Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)

T Kleefstra, CE Franken, YHJM Arens, GJA Ramakers, HG Yntema, EA Sistermans, CFCH Hulsmans, WN Nillesen, H Van Bokhoven, BBA De Vries, BCJ Hamel

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 693 KB

english, 2004

5

X-linked mental retardation: further lumping, splitting and emerging phenotypes

T Kleefstra, BCJ Hamel

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 652 KB

english, 2005

6

Pure subtelomeric microduplications as a cause of mental retardation

EM Ruiter, DA Koolen, T Kleefstra, WM Nillesen, R Pfundt, N De Leeuw, BCJ Hamel, HG Brunner, EA Sistermans, BBA De Vries

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 331 KB

english, 2007

7

Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation

T Kleefstra, EH Rosenberg, GS Salomons, H Stroink, H Van Bokhoven, BCJ Hamel, BBA De Vries

Journal:

Clinical Genetics

Year:

2005

Language:

english

File:

PDF, 571 KB

english, 2005

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