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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
April 17, 2007
Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics
Sibel Kantarci, Patricia K Donahoe
Archives of Pathology & Laboratory Medicine
|
August 1, 2013
An unusual case of Philadelphia chromosome-positive chronic myelogenous leukemia with trisomy 19 presenting with megakaryoblastosis and myelofibrosis
Nika Aljinovic, Agata M Bogusz, Sibel Kantarci, et al.
American Journal of Medical Genetics. Part A
|
January 25, 2014
De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders
Ina E Amarillo, Wenhui Laura Li, Xinmin Li, et al.
Endocrinology
|
January 7, 2011
Human endometrial cells express elevated levels of pluripotent factors and are more amenable to reprogramming into induced pluripotent stem cells
Joo Hyun Park, Laurence Daheron, Sibel Kantarci, et al.
Molecular Cytogenetics
|
February 2, 2013
Atypical rearrangement involving 3'-IGH@ and a breakpoint at least 400 Kb upstream of an intact MYC in a CLL patient with an apparently balanced t(8;14)(q24.1;q32) and negative MYC expression
Ina Amarillo, Peter H Bui, Sibel Kantarci, et al.
American Journal of Medical Genetics. Part A
|
February 7, 2014
X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings
Nesrine Bissar-Tadmouri, Whithey L Donahue, Lihadh Al-Gazali, et al.
Clinical Case Reports
|
June 8, 2017
Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and <i>MED13L</i> haploinsufficiency syndromes
Sureni V Mullegama, Phillip Jensik, Chen Li, et al.
American Journal of Clinical Pathology
|
May 18, 2010
A call to action: training pathology residents in genomics and personalized medicine
Richard L Haspel, Ramy Arnaout, Lauren Briere, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 17, 2019
Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Lora J H Bean, Birgit Funke, Colleen M Carlston, et al.
American Journal of Medical Genetics. Part A
|
April 8, 2015
Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype
Saumya S Jamuar, Hatice Duzkale, Neslihan Duzkale, et al.
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of 3
Search research articles
Search
Showing results (1-10 of 26) with videos related to
Sort By:
Page
of 3
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
April 17, 2007
Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics
Sibel Kantarci, Patricia K Donahoe
Archives of Pathology & Laboratory Medicine
|
August 1, 2013
An unusual case of Philadelphia chromosome-positive chronic myelogenous leukemia with trisomy 19 presenting with megakaryoblastosis and myelofibrosis
Nika Aljinovic, Agata M Bogusz, Sibel Kantarci, et al.
American Journal of Medical Genetics. Part A
|
January 25, 2014
De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders
Ina E Amarillo, Wenhui Laura Li, Xinmin Li, et al.
Endocrinology
|
January 7, 2011
Human endometrial cells express elevated levels of pluripotent factors and are more amenable to reprogramming into induced pluripotent stem cells
Joo Hyun Park, Laurence Daheron, Sibel Kantarci, et al.
Molecular Cytogenetics
|
February 2, 2013
Atypical rearrangement involving 3'-IGH@ and a breakpoint at least 400 Kb upstream of an intact MYC in a CLL patient with an apparently balanced t(8;14)(q24.1;q32) and negative MYC expression
Ina Amarillo, Peter H Bui, Sibel Kantarci, et al.
American Journal of Medical Genetics. Part A
|
February 7, 2014
X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings
Nesrine Bissar-Tadmouri, Whithey L Donahue, Lihadh Al-Gazali, et al.
Clinical Case Reports
|
June 8, 2017
Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and <i>MED13L</i> haploinsufficiency syndromes
Sureni V Mullegama, Phillip Jensik, Chen Li, et al.
American Journal of Clinical Pathology
|
May 18, 2010
A call to action: training pathology residents in genomics and personalized medicine
Richard L Haspel, Ramy Arnaout, Lauren Briere, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 17, 2019
Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Lora J H Bean, Birgit Funke, Colleen M Carlston, et al.
American Journal of Medical Genetics. Part A
|
April 8, 2015
Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype
Saumya S Jamuar, Hatice Duzkale, Neslihan Duzkale, et al.
Page
of 3