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Orphanet Journal of Rare Diseases
|
March 26, 2014
Clinical phenotypes of MAGEL2 mutations and deletions
Karin Buiting, Nataliya Di Donato, Jasmin Beygo, et al.
Clinical Genetics
|
November 15, 2000
Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling
K Buiting, C Färber, P Kroisel, et al.
Human Molecular Genetics
|
September 24, 2004
Somatic mosaicism in patients with Angelman syndrome and an imprinting defect
Hülya Nazlican, Michael Zeschnigk, Uwe Claussen, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
December 20, 2005
[A careful course of action in a conflict regarding useful treatment of a newborn infant with severe brain damage]
R H T van Beek, H P J Buiting, F H de Haan, et al.
European Journal of Clinical Microbiology & Infectious Diseases : Official Publication of the European Society of Clinical Microbiology
|
March 12, 1998
Urinary tract infections with Aerococcus urinae in the south of The Netherlands
P M Schuur, M E Kasteren, L Sabbe, et al.
American Journal of Human Genetics
|
May 1, 1994
Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes
A Reis, B Dittrich, V Greger, et al.
Nature Genetics
|
May 10, 2000
De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch
B Bielinska, S M Blaydes, K Buiting, et al.
Nature Genetics
|
December 2, 2000
The imprinting box of the Prader-Willi/Angelman syndrome domain
R Shemer, A Y Hershko, J Perk, et al.
Human Molecular Genetics
|
February 25, 2010
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats
Frédérique Béna, Stefania Gimelli, Eugenia Migliavacca, et al.
Clinical Dysmorphology
|
December 20, 2015
X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy
Barbara Mikat, Claudia Roll, Detlev Schindler, et al.
Page
of 31
Search research articles
Search
Showing results (151-160 of 305) with videos related to
Sort By:
Page
of 31
Orphanet Journal of Rare Diseases
|
March 26, 2014
Clinical phenotypes of MAGEL2 mutations and deletions
Karin Buiting, Nataliya Di Donato, Jasmin Beygo, et al.
Clinical Genetics
|
November 15, 2000
Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling
K Buiting, C Färber, P Kroisel, et al.
Human Molecular Genetics
|
September 24, 2004
Somatic mosaicism in patients with Angelman syndrome and an imprinting defect
Hülya Nazlican, Michael Zeschnigk, Uwe Claussen, et al.
Nederlands Tijdschrift Voor Geneeskunde
|
December 20, 2005
[A careful course of action in a conflict regarding useful treatment of a newborn infant with severe brain damage]
R H T van Beek, H P J Buiting, F H de Haan, et al.
European Journal of Clinical Microbiology & Infectious Diseases : Official Publication of the European Society of Clinical Microbiology
|
March 12, 1998
Urinary tract infections with Aerococcus urinae in the south of The Netherlands
P M Schuur, M E Kasteren, L Sabbe, et al.
American Journal of Human Genetics
|
May 1, 1994
Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes
A Reis, B Dittrich, V Greger, et al.
Nature Genetics
|
May 10, 2000
De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch
B Bielinska, S M Blaydes, K Buiting, et al.
Nature Genetics
|
December 2, 2000
The imprinting box of the Prader-Willi/Angelman syndrome domain
R Shemer, A Y Hershko, J Perk, et al.
Human Molecular Genetics
|
February 25, 2010
A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats
Frédérique Béna, Stefania Gimelli, Eugenia Migliavacca, et al.
Clinical Dysmorphology
|
December 20, 2015
X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy
Barbara Mikat, Claudia Roll, Detlev Schindler, et al.
Page
of 31