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Bregje W M van Bon

Showing results (1-10 of 45) with videos related to

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Epilepsy Research|January 17, 2012
A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNAGeert Vandeweyer, Nathalie Van der Aa, Berten Ceulemans, et al.
European Journal of Human Genetics : EJHG|April 19, 2022
Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairmentsLottie D Morison, Ruth O Braden, David J Amor, et al.
Clinical Dysmorphology|June 6, 2012
A microduplication of the Rubinstein-Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardationBeyhan Tüysüz, Bregje W M van Bon, Zeynep Alp, et al.
American Journal of Medical Genetics. Part A|April 5, 2008
Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and reviewBregje W M van Bon, David A Koolen, Rolph Pfundt, et al.
Clinical Dysmorphology|September 6, 2007
Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and reviewBregje W M van Bon, David A Koolen, Ilse Feenstra, et al.
Case Reports in Genetics|December 18, 2012
Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patientFarmaditya E P Mundhofir, Helger G Yntema, Ineke van der Burgt, et al.
Neuromuscular Disorders : NMD|July 27, 2012
Mutations in TPM2 and congenital fibre type disproportionNigel F Clarke, Leigh B Waddell, Lilian T L Sie, et al.
Gene|September 22, 2012
Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversionFarmaditya E P Mundhofir, Dominique Smeets, Willy Nillesen, et al.
Indian Journal of Human Genetics|September 11, 2013
Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular studyFarmaditya E P Mundhofir, Willy M Nillesen, Bregje W M Van Bon, et al.
Prenatal Diagnosis|January 7, 2014
Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNAKaren Buysse, Joep de Ligt, Irene M Janssen, et al.
Pageof 5

Showing results (1-10 of 45) with videos related to

Sort By:
Pageof 5
Epilepsy Research|January 17, 2012
A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNAGeert Vandeweyer, Nathalie Van der Aa, Berten Ceulemans, et al.
European Journal of Human Genetics : EJHG|April 19, 2022
Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairmentsLottie D Morison, Ruth O Braden, David J Amor, et al.
Clinical Dysmorphology|June 6, 2012
A microduplication of the Rubinstein-Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardationBeyhan Tüysüz, Bregje W M van Bon, Zeynep Alp, et al.
American Journal of Medical Genetics. Part A|April 5, 2008
Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and reviewBregje W M van Bon, David A Koolen, Rolph Pfundt, et al.
Clinical Dysmorphology|September 6, 2007
Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and reviewBregje W M van Bon, David A Koolen, Ilse Feenstra, et al.
Case Reports in Genetics|December 18, 2012
Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patientFarmaditya E P Mundhofir, Helger G Yntema, Ineke van der Burgt, et al.
Neuromuscular Disorders : NMD|July 27, 2012
Mutations in TPM2 and congenital fibre type disproportionNigel F Clarke, Leigh B Waddell, Lilian T L Sie, et al.
Gene|September 22, 2012
Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversionFarmaditya E P Mundhofir, Dominique Smeets, Willy Nillesen, et al.
Indian Journal of Human Genetics|September 11, 2013
Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular studyFarmaditya E P Mundhofir, Willy M Nillesen, Bregje W M Van Bon, et al.
Prenatal Diagnosis|January 7, 2014
Detecting fetal subchromosomal aberrations by MPS: an unexpected discrepancy between amniocyte DNA and ccffDNAKaren Buysse, Joep de Ligt, Irene M Janssen, et al.
Pageof 5