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Cytogenetic and Genome Research
|
August 1, 2015
Class II Analphoid Chromosome in a Child with Aberrant Chromosome 7: A Rare Cytogenetic Association
Madhavan Jeevan Kumar, Rangasamy Ashok Kumar, Venugopal Subhashree, et al.
Clinical Dysmorphology
|
April 14, 2020
Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families
Periyasamy Radhakrishnan, Prince Jacob, Shalini S Nayak, et al.
Genes
|
April 30, 2021
Intragenic Deletions in <i>FLNB</i> Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome
Kaya Fukushima, Padmini Parthasarathy, Emma M Wade, et al.
BMC Medical Genetics
|
March 14, 2020
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations
Jeevana Praharsha Athota, Meenakshi Bhat, Sheela Nampoothiri, et al.
International Journal of Cardiology
|
November 10, 2006
Novel mitochondrial DNA mutations implicated in Noonan syndrome
Perundurai S Dhandapany, Sakthivel Sadayappan, Ayyasamy Vanniarajan, et al.
Plos One
|
August 17, 2013
A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia
Ying Hu, I-Ping Chen, Salome de Almeida, et al.
The Indian Journal of Medical Research
|
December 10, 2016
Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence <i>in situ</i> hybridization (FISH)
Shruthi Mohan, Teena Koshy, Perumal Vekatachalam, et al.
American Journal of Medical Genetics. Part A
|
January 28, 2017
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations
Smrithi Salian, Tae-Joon Cho, Shubha R Phadke, et al.
Journal of Genetics
|
June 11, 2026
Molecular characterization of individuals with RASopathies: Spectrum of genetic variants in a large Indian cohort
Ambika Srikanth, Tejashwini Vittal Kumar, Jeevana Praharsha Athota, et al.
Journal of Human Genetics
|
January 25, 2019
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy
Dhanya Lakshmi Narayanan, Divya Matta, Neerja Gupta, et al.
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Search research articles
Search
Showing results (11-20 of 30) with videos related to
Sort By:
Page
of 3
Cytogenetic and Genome Research
|
August 1, 2015
Class II Analphoid Chromosome in a Child with Aberrant Chromosome 7: A Rare Cytogenetic Association
Madhavan Jeevan Kumar, Rangasamy Ashok Kumar, Venugopal Subhashree, et al.
Clinical Dysmorphology
|
April 14, 2020
Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families
Periyasamy Radhakrishnan, Prince Jacob, Shalini S Nayak, et al.
Genes
|
April 30, 2021
Intragenic Deletions in <i>FLNB</i> Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome
Kaya Fukushima, Padmini Parthasarathy, Emma M Wade, et al.
BMC Medical Genetics
|
March 14, 2020
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations
Jeevana Praharsha Athota, Meenakshi Bhat, Sheela Nampoothiri, et al.
International Journal of Cardiology
|
November 10, 2006
Novel mitochondrial DNA mutations implicated in Noonan syndrome
Perundurai S Dhandapany, Sakthivel Sadayappan, Ayyasamy Vanniarajan, et al.
Plos One
|
August 17, 2013
A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia
Ying Hu, I-Ping Chen, Salome de Almeida, et al.
The Indian Journal of Medical Research
|
December 10, 2016
Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence <i>in situ</i> hybridization (FISH)
Shruthi Mohan, Teena Koshy, Perumal Vekatachalam, et al.
American Journal of Medical Genetics. Part A
|
January 28, 2017
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations
Smrithi Salian, Tae-Joon Cho, Shubha R Phadke, et al.
Journal of Genetics
|
June 11, 2026
Molecular characterization of individuals with RASopathies: Spectrum of genetic variants in a large Indian cohort
Ambika Srikanth, Tejashwini Vittal Kumar, Jeevana Praharsha Athota, et al.
Journal of Human Genetics
|
January 25, 2019
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy
Dhanya Lakshmi Narayanan, Divya Matta, Neerja Gupta, et al.
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of 3