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Robert Roger Lebel

Showing results (1-10 of 22) with videos related to

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Seminars in Reproductive Medicine|June 19, 2013
Risks of reproducing with a genetic disorderMelissa Ciano Byler, Robert Roger Lebel
American Journal of Clinical Pathology|August 8, 2006
Quantitative standards for fetal and neonatal autopsyJohn G Archie, Julianne S Collins, Robert Roger Lebel
Fetal and Pediatric Pathology|October 22, 2009
Prenatal diagnostic accuracy in South Carolina demonstrated by autopsyRobert Roger Lebel, Jennifer M Avery, Patti J Broome, et al.
Journal of Pediatric Gastroenterology and Nutrition|November 7, 2014
Gastrointestinal manifestations in diploid/triploid mixoploidyFarida K Lalani, Garrett L Elsner, Robert Roger Lebel, et al.
American Journal of Medical Genetics. Part A|May 24, 2024
CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patientJack Tellerday, Jennifer Black, Donald C Schuessler, et al.
Fetal and Pediatric Pathology|July 18, 2008
Fetal peritonitis due to appendiceal rupture: a rare complication of hydropsRobert Roger Lebel, Jennifer M Avery, Patti J Broome, et al.
American Journal of Medical Genetics. Part A|March 20, 2025
Proximal Deletions of 14q32.2 Result in Severe Neurodevelopmental Outcomes, Congenital Anomalies, and Dysmorphic FeaturesJennifer Black, Robert Roger Lebel, Ria Garg, et al.
European Journal of Medical Genetics|February 3, 2025
A novel KDM5C variant corrects a previously erroneous diagnosisJulia Chapin, Bekim Sadikovic, Jennifer Kerkhof, et al.
European Journal of Human Genetics : EJHG|September 19, 2013
A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domainJules G Leroy, David Sillence, Tim Wood, et al.
American Journal of Medical Genetics. Part A|March 4, 2017
Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutationsJordana L Gilman, Heather A Newman, Rebecca Freeman, et al.
Pageof 3

Showing results (1-10 of 22) with videos related to

Sort By:
Pageof 3
Seminars in Reproductive Medicine|June 19, 2013
Risks of reproducing with a genetic disorderMelissa Ciano Byler, Robert Roger Lebel
American Journal of Clinical Pathology|August 8, 2006
Quantitative standards for fetal and neonatal autopsyJohn G Archie, Julianne S Collins, Robert Roger Lebel
Fetal and Pediatric Pathology|October 22, 2009
Prenatal diagnostic accuracy in South Carolina demonstrated by autopsyRobert Roger Lebel, Jennifer M Avery, Patti J Broome, et al.
Journal of Pediatric Gastroenterology and Nutrition|November 7, 2014
Gastrointestinal manifestations in diploid/triploid mixoploidyFarida K Lalani, Garrett L Elsner, Robert Roger Lebel, et al.
American Journal of Medical Genetics. Part A|May 24, 2024
CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patientJack Tellerday, Jennifer Black, Donald C Schuessler, et al.
Fetal and Pediatric Pathology|July 18, 2008
Fetal peritonitis due to appendiceal rupture: a rare complication of hydropsRobert Roger Lebel, Jennifer M Avery, Patti J Broome, et al.
American Journal of Medical Genetics. Part A|March 20, 2025
Proximal Deletions of 14q32.2 Result in Severe Neurodevelopmental Outcomes, Congenital Anomalies, and Dysmorphic FeaturesJennifer Black, Robert Roger Lebel, Ria Garg, et al.
European Journal of Medical Genetics|February 3, 2025
A novel KDM5C variant corrects a previously erroneous diagnosisJulia Chapin, Bekim Sadikovic, Jennifer Kerkhof, et al.
European Journal of Human Genetics : EJHG|September 19, 2013
A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domainJules G Leroy, David Sillence, Tim Wood, et al.
American Journal of Medical Genetics. Part A|March 4, 2017
Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutationsJordana L Gilman, Heather A Newman, Rebecca Freeman, et al.
Pageof 3