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Nancy B Spinner

Showing results (71-80 of 140) with videos related to

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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 regionKosuke 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 hydropsSohela 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 resultsRamakrishnan Rajagopalan, Melissa A Gilbert, Deborah A McEldrew, et al.
BMC Bioinformatics|July 23, 2014
Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontologyAaron J Masino, Elizabeth T Dechene, Matthew C Dulik, et al.
American Journal of Medical Genetics. Part A|December 25, 2015
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomaliesRamakrishnan Rajagopalan, Christopher M Grochowski, Melissa A Gilbert, et al.
Human Genetics|October 10, 2013
Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresiaEllen A Tsai, Christopher M Grochowski, Kathleen M Loomes, et al.
American Journal of Medical Genetics. Part A|November 23, 2011
Renal anomalies in Alagille syndrome: a disease-defining featureBinita M Kamath, Gisele Podkameni, Anne L Hutchinson, et al.
American Journal of Medical Genetics. Part A|December 25, 2009
A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21Chad R Haldeman-Englert, Kimberly A Chapman, Hillary Kruger, et al.
Gastroenterology|January 23, 2013
Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility geneShuang Cui, Melissa Leyva-Vega, Ellen A Tsai, et al.
JAMA Network Open|April 8, 2026
Parent- and Intensivist-Reported Utility for Neonatal Genomic TestingKatharine Press Callahan, K Taylor Wild, Alexandra Heck, et al.
Pageof 14

Showing results (71-80 of 140) with videos related to

Sort By:
Pageof 14
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 regionKosuke 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 hydropsSohela 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 resultsRamakrishnan Rajagopalan, Melissa A Gilbert, Deborah A McEldrew, et al.
BMC Bioinformatics|July 23, 2014
Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontologyAaron J Masino, Elizabeth T Dechene, Matthew C Dulik, et al.
American Journal of Medical Genetics. Part A|December 25, 2015
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomaliesRamakrishnan Rajagopalan, Christopher M Grochowski, Melissa A Gilbert, et al.
Human Genetics|October 10, 2013
Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresiaEllen A Tsai, Christopher M Grochowski, Kathleen M Loomes, et al.
American Journal of Medical Genetics. Part A|November 23, 2011
Renal anomalies in Alagille syndrome: a disease-defining featureBinita M Kamath, Gisele Podkameni, Anne L Hutchinson, et al.
American Journal of Medical Genetics. Part A|December 25, 2009
A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21Chad R Haldeman-Englert, Kimberly A Chapman, Hillary Kruger, et al.
Gastroenterology|January 23, 2013
Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility geneShuang Cui, Melissa Leyva-Vega, Ellen A Tsai, et al.
JAMA Network Open|April 8, 2026
Parent- and Intensivist-Reported Utility for Neonatal Genomic TestingKatharine Press Callahan, K Taylor Wild, Alexandra Heck, et al.
Pageof 14