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A van Haeringen

Showing results (51-60 of 60) with videos related to

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Journal of Medical Genetics|June 28, 2005
Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parentsC Rosenberg, J Knijnenburg, E Bakker, et al.
Clinical Genetics|May 22, 2010
X-chromosome duplications in males with mental retardation: pathogenic or benign variants?A C J Gijsbers, N S den Hollander, A T J M Helderman-van de Enden, et al.
Journal of Medical Genetics|March 4, 2000
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutationsF Petrij, H G Dauwerse, R I Blough, et al.
BMC Medical Genetics|July 20, 2015
Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcomeW Kelmemi, M E Teeuw, Z Bochdanovits, et al.
Cell|October 27, 1999
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndromeJ Celli, P Duijf, B C Hamel, et al.
European Journal of Human Genetics : EJHG|June 16, 2019
De novo variants in CNOT3 cause a variable neurodevelopmental disorderR Martin, M Splitt, D Genevieve, et al.
Human Molecular Genetics|February 13, 2001
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63J A McGrath, P H Duijf, V Doetsch, et al.
European Journal of Medical Genetics|March 25, 2009
Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individualsE K Bijlsma, A C J Gijsbers, J H M Schuurs-Hoeijmakers, et al.
Journal of Medical Genetics|April 7, 2009
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionF Lacbawan, B D Solomon, E Roessler, et al.
Journal of Intellectual Disability Research : JIDR|October 9, 2020
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromesP A Mulder, I D C van Balkom, A M Landlust, et al.
Pageof 6

Showing results (51-60 of 60) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 60 results.
Journal of Medical Genetics|June 28, 2005
Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parentsC Rosenberg, J Knijnenburg, E Bakker, et al.
Clinical Genetics|May 22, 2010
X-chromosome duplications in males with mental retardation: pathogenic or benign variants?A C J Gijsbers, N S den Hollander, A T J M Helderman-van de Enden, et al.
Journal of Medical Genetics|March 4, 2000
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutationsF Petrij, H G Dauwerse, R I Blough, et al.
BMC Medical Genetics|July 20, 2015
Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcomeW Kelmemi, M E Teeuw, Z Bochdanovits, et al.
Cell|October 27, 1999
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndromeJ Celli, P Duijf, B C Hamel, et al.
European Journal of Human Genetics : EJHG|June 16, 2019
De novo variants in CNOT3 cause a variable neurodevelopmental disorderR Martin, M Splitt, D Genevieve, et al.
Human Molecular Genetics|February 13, 2001
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63J A McGrath, P H Duijf, V Doetsch, et al.
European Journal of Medical Genetics|March 25, 2009
Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individualsE K Bijlsma, A C J Gijsbers, J H M Schuurs-Hoeijmakers, et al.
Journal of Medical Genetics|April 7, 2009
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and functionF Lacbawan, B D Solomon, E Roessler, et al.
Journal of Intellectual Disability Research : JIDR|October 9, 2020
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromesP A Mulder, I D C van Balkom, A M Landlust, et al.
Pageof 6