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American Journal of Medical Genetics. Part A
|
April 4, 2019
Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities
Anju Shukla, Katta M Girisha, Puneeth H Somashekar, et al.
European Radiology
|
May 20, 2014
Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene
Ramiah Rajeshkannan, Chinmay kulkarni, Mahesh Kappanayil, et al.
Congenital Heart Disease
|
March 7, 2018
Platelet parameters in children with chromosome 22q11 deletion and conotruncal heart defects
Alka Anilkumar, D M Vasudevan, Mahesh Kappanayil, et al.
Clinical Neuroradiology
|
September 4, 2020
Methylenetetrahydrofolate Reductase Deficiency as a Cause of Treatable Adult-onset Leukoencephalopathy and Myelopathy
Santhakumar Senthilvelan, Sathish Kandasamy, Ramshekhar N Menon, et al.
Hormones (Athens, Greece)
|
March 23, 2023
Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS)
Ana Monteiro, Praveen V Pavithran, Manuprasad Puthukulangara, et al.
American Journal of Medical Genetics. Part A
|
December 23, 2017
Elsahy-Waters syndrome is caused by biallelic mutations in CDH11
Frederike L Harms, Sheela Nampoothiri, Shams Anazi, et al.
Laboratory Medicine
|
April 13, 2016
Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy
Shruthi Mohan, Sheela Nampoothiri, Dhanya Yesodharan, et al.
Indian Journal of Pediatrics
|
March 1, 2012
Multifocal Tuberculous osteomyelitis: possible inherited interferon gamma axis defect
Sheela Nampoothiri, Surjit Singh, K N Parameswaran Nampoothiri, et al.
Indian Journal of Pediatrics
|
May 31, 2020
Lipoprotein Lipase Deficiency
Shwetha Kuthiroly, Dhanya Yesodharan, Natasha Radhakrishnan, et al.
American Journal of Medical Genetics. Part A
|
December 5, 2018
Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia
Joshi Stephen, Sheela Nampoothiri, Srikar Kuppa, et al.
Page
of 17
Search research articles
Search
Showing results (31-40 of 170) with videos related to
Sort By:
Page
of 17
American Journal of Medical Genetics. Part A
|
April 4, 2019
Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities
Anju Shukla, Katta M Girisha, Puneeth H Somashekar, et al.
European Radiology
|
May 20, 2014
Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene
Ramiah Rajeshkannan, Chinmay kulkarni, Mahesh Kappanayil, et al.
Congenital Heart Disease
|
March 7, 2018
Platelet parameters in children with chromosome 22q11 deletion and conotruncal heart defects
Alka Anilkumar, D M Vasudevan, Mahesh Kappanayil, et al.
Clinical Neuroradiology
|
September 4, 2020
Methylenetetrahydrofolate Reductase Deficiency as a Cause of Treatable Adult-onset Leukoencephalopathy and Myelopathy
Santhakumar Senthilvelan, Sathish Kandasamy, Ramshekhar N Menon, et al.
Hormones (Athens, Greece)
|
March 23, 2023
Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS)
Ana Monteiro, Praveen V Pavithran, Manuprasad Puthukulangara, et al.
American Journal of Medical Genetics. Part A
|
December 23, 2017
Elsahy-Waters syndrome is caused by biallelic mutations in CDH11
Frederike L Harms, Sheela Nampoothiri, Shams Anazi, et al.
Laboratory Medicine
|
April 13, 2016
Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy
Shruthi Mohan, Sheela Nampoothiri, Dhanya Yesodharan, et al.
Indian Journal of Pediatrics
|
March 1, 2012
Multifocal Tuberculous osteomyelitis: possible inherited interferon gamma axis defect
Sheela Nampoothiri, Surjit Singh, K N Parameswaran Nampoothiri, et al.
Indian Journal of Pediatrics
|
May 31, 2020
Lipoprotein Lipase Deficiency
Shwetha Kuthiroly, Dhanya Yesodharan, Natasha Radhakrishnan, et al.
American Journal of Medical Genetics. Part A
|
December 5, 2018
Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia
Joshi Stephen, Sheela Nampoothiri, Srikar Kuppa, et al.
Page
of 17