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European Journal of Medical Genetics
|
March 13, 2012
Ring chromosome 20
Robert D Daber, Laura K Conlin, Laura D Leonard, et al.
American Journal of Medical Genetics. Part A
|
January 27, 2010
Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20
Cheryl Descipio, Jennifer D Morrissette, Laura K Conlin, et al.
American Journal of Medical Genetics. Part A
|
August 28, 2010
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease
Matthew G Sampson, Curtis R Coughlin, Paige Kaplan, et al.
American Journal of Medical Genetics. Part A
|
February 8, 2008
Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals
Cheryl DeScipio, Nancy B Spinner, Maninder Kaur, et al.
American Journal of Medical Genetics. Part A
|
October 15, 2011
Mosaic trisomy 17: variable clinical and cytogenetic presentation
Robert Daber, Kimberly A Chapman, Eduardo Ruchelli, et al.
American Journal of Medical Genetics. Part A
|
May 16, 2017
CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues
Minjie Luo, Jinbo Fan, Tara L Wenger, et al.
American Journal of Medical Genetics. Part A
|
November 22, 2012
Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region
Kosuke Izumi, Laura K Conlin, Donna Berrodin, et al.
Plos One
|
October 3, 2013
CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops
Sohela Shah, Laura K Conlin, Luis Gomez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 20, 2020
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results
Ramakrishnan Rajagopalan, Melissa A Gilbert, Deborah A McEldrew, et al.
Cancer Genetics
|
July 4, 2020
Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome
Stefan Rentas, Vinodh Pillai, Gerald B Wertheim, et al.
Page
of 9
Search research articles
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Showing results (21-30 of 85) with videos related to
Sort By:
Page
of 9
European Journal of Medical Genetics
|
March 13, 2012
Ring chromosome 20
Robert D Daber, Laura K Conlin, Laura D Leonard, et al.
American Journal of Medical Genetics. Part A
|
January 27, 2010
Two siblings with alternate unbalanced recombinants derived from a large cryptic maternal pericentric inversion of chromosome 20
Cheryl Descipio, Jennifer D Morrissette, Laura K Conlin, et al.
American Journal of Medical Genetics. Part A
|
August 28, 2010
Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease
Matthew G Sampson, Curtis R Coughlin, Paige Kaplan, et al.
American Journal of Medical Genetics. Part A
|
February 8, 2008
Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals
Cheryl DeScipio, Nancy B Spinner, Maninder Kaur, et al.
American Journal of Medical Genetics. Part A
|
October 15, 2011
Mosaic trisomy 17: variable clinical and cytogenetic presentation
Robert Daber, Kimberly A Chapman, Eduardo Ruchelli, et al.
American Journal of Medical Genetics. Part A
|
May 16, 2017
CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues
Minjie Luo, Jinbo Fan, Tara L Wenger, et al.
American Journal of Medical Genetics. Part A
|
November 22, 2012
Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region
Kosuke Izumi, Laura K Conlin, Donna Berrodin, et al.
Plos One
|
October 3, 2013
CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops
Sohela Shah, Laura K Conlin, Luis Gomez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 20, 2020
Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results
Ramakrishnan Rajagopalan, Melissa A Gilbert, Deborah A McEldrew, et al.
Cancer Genetics
|
July 4, 2020
Evolution of histomorphologic, cytogenetic, and genetic abnormalities in an untreated patient with MIRAGE syndrome
Stefan Rentas, Vinodh Pillai, Gerald B Wertheim, et al.
Page
of 9