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Christine M Eng

Showing results (11-20 of 100) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 17, 2008
Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectivesSandra Darilek, Patricia Ward, Amber Pursley, et al.
Journal of Computer Assisted Tomography|April 20, 2004
Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypesRonald B J Glass, Kenneth H Astrin, Karen I Norton, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|September 25, 2012
Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR geneSha Tang, Siby P Moonnumakal, Blair Stevens, et al.
Human Genetics|March 21, 2018
De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalitiesMagalie S Leduc, Marianne Mcguire, Suneeta Madan-Khetarpal, et al.
Pediatric Research|July 4, 2008
Characterization of Fabry disease in 352 pediatric patients in the Fabry RegistryRobert J Hopkin, John Bissler, Maryam Banikazemi, et al.
Pediatric Blood & Cancer|October 28, 2015
Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid TumorsLaurence B McCullough, Melody J Slashinski, Amy L McGuire, et al.
Prenatal Diagnosis|August 16, 2015
Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practiceLauren E Westerfield, Samantha R Stover, Veena S Mathur, et al.
Frontiers in Medicine|August 20, 2024
CffDNA screening for Niemann-pick disease, type C1: a case seriesSydney A Lau, Romy I Fawaz, Robert Rigobello, et al.
Journal of Human Genetics|May 20, 2011
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joiningJunko Oshima, Jennifer A Lee, Amy M Breman, et al.
JAMA Neurology|May 24, 2013
Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxiaWendy K M Liew, Tawfeg Ben-Omran, Basil T Darras, et al.
Pageof 10

Showing results (11-20 of 100) with videos related to

Sort By:
Pageof 10
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 17, 2008
Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectivesSandra Darilek, Patricia Ward, Amber Pursley, et al.
Journal of Computer Assisted Tomography|April 20, 2004
Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypesRonald B J Glass, Kenneth H Astrin, Karen I Norton, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|September 25, 2012
Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR geneSha Tang, Siby P Moonnumakal, Blair Stevens, et al.
Human Genetics|March 21, 2018
De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalitiesMagalie S Leduc, Marianne Mcguire, Suneeta Madan-Khetarpal, et al.
Pediatric Research|July 4, 2008
Characterization of Fabry disease in 352 pediatric patients in the Fabry RegistryRobert J Hopkin, John Bissler, Maryam Banikazemi, et al.
Pediatric Blood & Cancer|October 28, 2015
Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid TumorsLaurence B McCullough, Melody J Slashinski, Amy L McGuire, et al.
Prenatal Diagnosis|August 16, 2015
Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practiceLauren E Westerfield, Samantha R Stover, Veena S Mathur, et al.
Frontiers in Medicine|August 20, 2024
CffDNA screening for Niemann-pick disease, type C1: a case seriesSydney A Lau, Romy I Fawaz, Robert Rigobello, et al.
Journal of Human Genetics|May 20, 2011
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joiningJunko Oshima, Jennifer A Lee, Amy M Breman, et al.
JAMA Neurology|May 24, 2013
Clinical application of whole-exome sequencing: a novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxiaWendy K M Liew, Tawfeg Ben-Omran, Basil T Darras, et al.
Pageof 10