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European Journal of Human Genetics : EJHG
|
June 16, 2018
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature
P Y Billie Au, Caitlin Goedhart, Marcia Ferguson, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2011
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C
Karen W Gripp, Elizabeth Hopkins, Katia Sol-Church, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne
|
June 1, 2016
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit
Hussein Daoud, Stephanie M Luco, Rui Li, et al.
Stem Cells Translational Medicine
|
December 18, 2013
Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience
Cecilia Götherström, Magnus Westgren, S W Steven Shaw, et al.
American Journal of Human Genetics
|
March 3, 2015
Mutations in the NHEJ component XRCC4 cause primordial dwarfism
Jennie E Murray, Mirjam van der Burg, Hanna IJspeert, et al.
European Journal of Human Genetics : EJHG
|
September 13, 2023
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families
Vani Jain, Seow Hoong Foo, Stephen Chooi, et al.
Nature Genetics
|
June 6, 2006
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease
Mark I Rees, Kirsten Harvey, Brian R Pearce, et al.
Pediatric Research
|
September 27, 2005
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
Deborah A McDermott, Michael C Bressan, Jie He, et al.
Molecular Cytogenetics
|
November 13, 2008
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH
Christine Tyson, Ying Qiao, Chansonette Harvard, et al.
Canadian Urological Association Journal = Journal De L'Association Des Urologues Du Canada
|
December 10, 2013
Canadian guideline on genetic screening for hereditary renal cell cancers
M Neil Reaume, Gail E Graham, Eva Tomiak, et al.
Page
of 5
Search research articles
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Showing results (31-40 of 46) with videos related to
Sort By:
Page
of 5
European Journal of Human Genetics : EJHG
|
June 16, 2018
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature
P Y Billie Au, Caitlin Goedhart, Marcia Ferguson, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2011
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C
Karen W Gripp, Elizabeth Hopkins, Katia Sol-Church, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne
|
June 1, 2016
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit
Hussein Daoud, Stephanie M Luco, Rui Li, et al.
Stem Cells Translational Medicine
|
December 18, 2013
Pre- and postnatal transplantation of fetal mesenchymal stem cells in osteogenesis imperfecta: a two-center experience
Cecilia Götherström, Magnus Westgren, S W Steven Shaw, et al.
American Journal of Human Genetics
|
March 3, 2015
Mutations in the NHEJ component XRCC4 cause primordial dwarfism
Jennie E Murray, Mirjam van der Burg, Hanna IJspeert, et al.
European Journal of Human Genetics : EJHG
|
September 13, 2023
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families
Vani Jain, Seow Hoong Foo, Stephen Chooi, et al.
Nature Genetics
|
June 6, 2006
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease
Mark I Rees, Kirsten Harvey, Brian R Pearce, et al.
Pediatric Research
|
September 27, 2005
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome
Deborah A McDermott, Michael C Bressan, Jie He, et al.
Molecular Cytogenetics
|
November 13, 2008
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH
Christine Tyson, Ying Qiao, Chansonette Harvard, et al.
Canadian Urological Association Journal = Journal De L'Association Des Urologues Du Canada
|
December 10, 2013
Canadian guideline on genetic screening for hereditary renal cell cancers
M Neil Reaume, Gail E Graham, Eva Tomiak, et al.
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of 5