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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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Value-Based Health Care (VBHC) in Sickle Cell Disease: A Dutch Initiative

Blood, 2015-12, Vol.126 (23), p.5572-5572

2015

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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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Relation Between Mutations in FVIII Gene and Response to Desmopressin in Patients with Hemophilia A

Blood, 2011-11, Vol.118 (21), p.29-29

2011

Volltextzugriff (PDF)

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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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

Volltextzugriff (PDF)

FAP: Challenges in Testing Children

Nursing & health sciences, 2007-09, Vol.9 (3), p.237-237

2007

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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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Sickle cell disease in heel injection screening. II

Nederlands tijdschrift voor geneeskunde, 2009-05, Vol.153 (18), p.858

2009

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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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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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Mild phenotypes in a series of patients with opitz gBBB syndrome with MID1 mutations

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

2005

Volltextzugriff (PDF)

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

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

2005

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Value-Based Health Care (VBHC) in Sickle Cell Disease: A Dutch Initiative

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

Relation Between Mutations in FVIII Gene and Response to Desmopressin in Patients with Hemophilia A

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

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

FAP: Challenges in Testing Children

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

Sickle cell disease in heel injection screening. II

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

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

Mild phenotypes in a series of patients with opitz gBBB syndrome with MID1 mutations

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

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

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