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Lakshmi Mehta

Showing results (21-30 of 45) with videos related to

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American Journal of Medical Genetics. Part A|August 9, 2018
Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCNRachel D Burnside, Sharon Molinari, Christina Botti, et al.
American Journal of Medical Genetics. Part A|April 11, 2012
Complex autism spectrum disorder in a patient with a 17q12 microduplicationTracy Brandt, Khyati Desai, David Grodberg, et al.
American Journal of Human Genetics|January 6, 2015
CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoproteinAnne Slavotinek, Julie Kaylor, Heather Pierce, et al.
American Journal of Medical Genetics. Part A|October 18, 2023
Homozygous deletion of the DSG3 terminal exon associated with acantholytic blistering of the oral and laryngeal mucosaNan Jiang, Taylor B Sewell, Theresa L Kowalski, et al.
Vascular Medicine (London, England)|January 10, 2022
Cardiovascular manifestations of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disordersEman R Rashed, Tania Ruiz Maya, Jennifer Black, et al.
Molecular Genetics and Metabolism|July 17, 2013
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophyAmy C Yang, Bobby G Ng, Steven A Moore, et al.
Orphanet Journal of Rare Diseases|March 26, 2013
Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative diseaseJames D Weisfeld-Adams, Lakshmi Mehta, Janet C Rucker, et al.
American Journal of Medical Genetics. Part A|November 11, 2003
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndromeJennifer J Johnston, Isabelle Olivos-Glander, Joyce Turner, et al.
Prenatal Diagnosis|February 28, 2012
Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathyHagith Yonath, Haike Reznik-Wolf, Michal Berkenstadt, et al.
Genome Medicine|September 5, 2015
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratoriesJinlian Wang, Jun Liao, Jinglan Zhang, et al.
Pageof 5

Showing results (21-30 of 45) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part A|August 9, 2018
Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCNRachel D Burnside, Sharon Molinari, Christina Botti, et al.
American Journal of Medical Genetics. Part A|April 11, 2012
Complex autism spectrum disorder in a patient with a 17q12 microduplicationTracy Brandt, Khyati Desai, David Grodberg, et al.
American Journal of Human Genetics|January 6, 2015
CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoproteinAnne Slavotinek, Julie Kaylor, Heather Pierce, et al.
American Journal of Medical Genetics. Part A|October 18, 2023
Homozygous deletion of the DSG3 terminal exon associated with acantholytic blistering of the oral and laryngeal mucosaNan Jiang, Taylor B Sewell, Theresa L Kowalski, et al.
Vascular Medicine (London, England)|January 10, 2022
Cardiovascular manifestations of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disordersEman R Rashed, Tania Ruiz Maya, Jennifer Black, et al.
Molecular Genetics and Metabolism|July 17, 2013
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophyAmy C Yang, Bobby G Ng, Steven A Moore, et al.
Orphanet Journal of Rare Diseases|March 26, 2013
Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative diseaseJames D Weisfeld-Adams, Lakshmi Mehta, Janet C Rucker, et al.
American Journal of Medical Genetics. Part A|November 11, 2003
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndromeJennifer J Johnston, Isabelle Olivos-Glander, Joyce Turner, et al.
Prenatal Diagnosis|February 28, 2012
Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathyHagith Yonath, Haike Reznik-Wolf, Michal Berkenstadt, et al.
Genome Medicine|September 5, 2015
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratoriesJinlian Wang, Jun Liao, Jinglan Zhang, et al.
Pageof 5