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Nephrocalcinosis as adult presentation of Bartter syndrome type II

Netherlands journal of medicine, 2014-02, Vol.72 (2), p.91-93

2014

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After the Introduction into the National Newborn Screening Program: Who Is Receiving Genetic Counseling for Hemoglobinopathies in The Netherlands?

Public health genomics, 2014-01, Vol.17 (1), p.16-22

2014

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Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

Journal of medical genetics, 2000-03, Vol.37 (3), p.168-176

2000

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Response to desmopressin is strongly dependent on F8 gene mutation type in mild and moderate haemophilia A

Thrombosis and haemostasis, 2013-03, Vol.109 (3), p.440

2013

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Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16)

Leukemia, 1997-12, Vol.11 (12), p.2087-2096

1997

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Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

Nature (London), 1995-07, Vol.376 (6538), p.348-351

1995

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A Second Acromelanistic Allelomorph at the Albino Locus of the Mongolian Gerbil (Meriones unguiculatus)

The Journal of heredity, 2001-01, Vol.92 (1), p.74-78

2001

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The Mouse Low-Density Lipoprotein Receptor Gene: cDNA Sequence and Exon-Intron Structure

Biochemical and biophysical research communications, 1993-03, Vol.191 (3), p.880-886

1993

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Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

American journal of medical genetics. Part A, 2005-01, Vol.132A (1), p.1-7

2005

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Recessive yellow in the Mongolian gerbil ( Meriones unguiculatus)

Journal of experimental animal science (1991), 2007-02, Vol.43 (4), p.319-327

2007

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Construction of a 1.2-Mb Contig Surrounding, and Molecular Analysis of, the Human CREB-Binding Protein (CBP/CREBBP) Gene on Chromosome 16p13.3

Genomics (San Diego, Calif.), 1997-05, Vol.42 (1), p.96-114

1997

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Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients

Journal of medical genetics, 1996-01, Vol.33 (1), p.82-83

1996

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Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome

American journal of medical genetics, 1994-12, Vol.53 (4), p.352-354

1994

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Deletion submicroscopique du chromosome 16p13.3: etude d'une serie de patients francais porteurs du syndrome de rubinstein-taybi

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 1997, Vol.4, p.230s-230s

1997

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Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome

American journal of medical genetics, 2000-01, Vol.90 (1), p.29-34

2000

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Rubinstein-Taybi syndrome caused by a de novo reciprocal translocation t(2;16)(q36.3;p13.3)

American journal of medical genetics, 2000-05, Vol.92 (1), p.47-52

2000

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Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome

American journal of medical genetics, 1998-07, Vol.78 (3), p.267-270

1998

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BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

Nature genetics, 1997-11, Vol.17 (3), p.341-345

1997

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BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

Nature genetics, 1997-11, Vol.17 (3), p.341-345

1997

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A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families

American journal of human genetics, 1997-05, Vol.60 (5), p.1041-1049

1997

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The majority of 22 Dutch high-risk breast cancer families are due to either BRCA1 or BRCA2

European journal of human genetics : EJHG, 1996, Vol.4 (4), p.225-230

1996

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Nephrocalcinosis as adult presentation of Bartter syndrome type II

After the Introduction into the National Newborn Screening Program: Who Is Receiving Genetic Counseling for Hemoglobinopathies in The Netherlands?

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

Response to desmopressin is strongly dependent on F8 gene mutation type in mild and moderate haemophilia A

Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16)

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

A Second Acromelanistic Allelomorph at the Albino Locus of the Mongolian Gerbil (Meriones unguiculatus)

The Mouse Low-Density Lipoprotein Receptor Gene: cDNA Sequence and Exon-Intron Structure

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

Recessive yellow in the Mongolian gerbil ( Meriones unguiculatus)

Construction of a 1.2-Mb Contig Surrounding, and Molecular Analysis of, the Human CREB-Binding Protein (CBP/CREBBP) Gene on Chromosome 16p13.3

Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients

Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome

Deletion submicroscopique du chromosome 16p13.3: etude d'une serie de patients francais porteurs du syndrome de rubinstein-taybi

Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome caused by a de novo reciprocal translocation t(2;16)(q36.3;p13.3)

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families

The majority of 22 Dutch high-risk breast cancer families are due to either BRCA1 or BRCA2

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