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American Journal of Medical Genetics
|
July 13, 2002
Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome
Marjan M Nezarati, Judith Loeffler, Grace Yoon, et al.
Pediatrics
|
June 4, 2016
Congenital Trismus From Brainstem Dysgenesis: Case Report and Review of Literature
Chris J Hong, Lisa Caulley, Scott Kohlert, et al.
American Journal of Medical Genetics. Part A
|
November 1, 2007
The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review
Linlea Armstrong, Gail E Graham, R Neil Schimke, et al.
American Journal of Medical Genetics. Part A
|
May 20, 2022
A 79-kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver-Russell syndrome-like phenotype
Krista Marie Vincent, Dimitri J Stavropoulos, Melanie Beaulieu-Bergeron, et al.
Canadian Urological Association Journal = Journal De L'Association Des Urologues Du Canada
|
December 9, 2014
Knowledge of genetic testing for hereditary kidney cancer in Canada is lacking: The results of the Canadian national hereditary kidney cancer needs assessment survey
Philippe D Violette, Suzanne Kamel-Reid, Gail E Graham, et al.
American Journal of Medical Genetics. Part A
|
June 4, 2025
Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant
Noémie Villeneuve-Cloutier, Christie A Boswell-Patterson, Lucas Bronicki, et al.
American Journal of Medical Genetics. Part A
|
March 19, 2011
Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication
Bob Argiropoulos, Melissa Carter, Kathy Brierley, et al.
Human Mutation
|
November 16, 2005
High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome
Stefan Aretz, Dietlinde Stienen, Siegfried Uhlhaas, et al.
American Journal of Medical Genetics. Part A
|
November 3, 2023
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature
Priya T Bhola, Radha Mishra, Jennifer E Posey, et al.
American Journal of Medical Genetics. Part A
|
May 11, 2017
Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort
Faheem Malam, Taila Hartley, Meredith K Gillespie, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 46) with videos related to
Sort By:
Page
of 5
American Journal of Medical Genetics
|
July 13, 2002
Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome
Marjan M Nezarati, Judith Loeffler, Grace Yoon, et al.
Pediatrics
|
June 4, 2016
Congenital Trismus From Brainstem Dysgenesis: Case Report and Review of Literature
Chris J Hong, Lisa Caulley, Scott Kohlert, et al.
American Journal of Medical Genetics. Part A
|
November 1, 2007
The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review
Linlea Armstrong, Gail E Graham, R Neil Schimke, et al.
American Journal of Medical Genetics. Part A
|
May 20, 2022
A 79-kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver-Russell syndrome-like phenotype
Krista Marie Vincent, Dimitri J Stavropoulos, Melanie Beaulieu-Bergeron, et al.
Canadian Urological Association Journal = Journal De L'Association Des Urologues Du Canada
|
December 9, 2014
Knowledge of genetic testing for hereditary kidney cancer in Canada is lacking: The results of the Canadian national hereditary kidney cancer needs assessment survey
Philippe D Violette, Suzanne Kamel-Reid, Gail E Graham, et al.
American Journal of Medical Genetics. Part A
|
June 4, 2025
Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant
Noémie Villeneuve-Cloutier, Christie A Boswell-Patterson, Lucas Bronicki, et al.
American Journal of Medical Genetics. Part A
|
March 19, 2011
Discordant phenotypes in a mother and daughter with mosaic supernumerary ring chromosome 19 explained by a de novo 7q36.2 deletion and 7p22.1 duplication
Bob Argiropoulos, Melissa Carter, Kathy Brierley, et al.
Human Mutation
|
November 16, 2005
High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome
Stefan Aretz, Dietlinde Stienen, Siegfried Uhlhaas, et al.
American Journal of Medical Genetics. Part A
|
November 3, 2023
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature
Priya T Bhola, Radha Mishra, Jennifer E Posey, et al.
American Journal of Medical Genetics. Part A
|
May 11, 2017
Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort
Faheem Malam, Taila Hartley, Meredith K Gillespie, et al.
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of 5