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European Journal of Human Genetics : EJHG
|
January 23, 2020
A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4
Prajnya Ranganath, Sreeja Perala, Lekshmi Nair, et al.
European Journal of Medical Genetics
|
June 13, 2021
A patient with POLA1 splice variant expands the yet evolving phenotype of Van Esch O'Driscoll syndrome
Mounika Endrakanti, Sumedha Saluja, Abdul S Ethayathulla, et al.
Plos One
|
December 31, 2015
Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia
Neha Gupta, Mercilena Benjamin, Anjana Kar, et al.
European Journal of Human Genetics : EJHG
|
December 17, 2015
A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene
Katta Mohan Girisha, Fanny Kortüm, Hitesh Shah, et al.
American Journal of Medical Genetics. Part A
|
February 15, 2024
PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient
Sivagamy Sithambaram, Prince Jacob, Kausthubham Neethukrishna, et al.
Clinical Genetics
|
April 5, 2025
A Novel Variant c.149G>A in CDK5 Gene Causing Lissencephaly Type 7
Amita Moirangthem, Anjana Kar, Mahima Sagar, et al.
Journal of Human Genetics
|
December 8, 2017
Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis
Anju Shukla, Aneek Das Bhowmik, Malavika Hebbar, et al.
Molecular Syndromology
|
January 2, 2023
Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation of <i>EYA3/EFCAB4b</i>
Usha R Dutta, Amrita Bhattacherjee, Ashish Bahal, et al.
Gynecologic and Obstetric Investigation
|
November 7, 2006
MTHFR 677C-->T and 1298A-->C polymorphisms: evaluation of maternal genotypic risk and association with level of neural tube defect
Ashwin Dalal, Mandakini Pradhan, Deepshikha Tiwari, et al.
Journal of Inherited Metabolic Disease
|
August 27, 2013
Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI
Piranit Nik Kantaputra, Hülya Kayserili, Yeliz Güven, et al.
Page
of 13
Search research articles
Search
Showing results (61-70 of 123) with videos related to
Sort By:
Page
of 13
European Journal of Human Genetics : EJHG
|
January 23, 2020
A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4
Prajnya Ranganath, Sreeja Perala, Lekshmi Nair, et al.
European Journal of Medical Genetics
|
June 13, 2021
A patient with POLA1 splice variant expands the yet evolving phenotype of Van Esch O'Driscoll syndrome
Mounika Endrakanti, Sumedha Saluja, Abdul S Ethayathulla, et al.
Plos One
|
December 31, 2015
Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia
Neha Gupta, Mercilena Benjamin, Anjana Kar, et al.
European Journal of Human Genetics : EJHG
|
December 17, 2015
A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene
Katta Mohan Girisha, Fanny Kortüm, Hitesh Shah, et al.
American Journal of Medical Genetics. Part A
|
February 15, 2024
PRKACA-related, atrial defects-polydactyly-multiple congenital malformation syndrome in an Indian patient
Sivagamy Sithambaram, Prince Jacob, Kausthubham Neethukrishna, et al.
Clinical Genetics
|
April 5, 2025
A Novel Variant c.149G>A in CDK5 Gene Causing Lissencephaly Type 7
Amita Moirangthem, Anjana Kar, Mahima Sagar, et al.
Journal of Human Genetics
|
December 8, 2017
Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis
Anju Shukla, Aneek Das Bhowmik, Malavika Hebbar, et al.
Molecular Syndromology
|
January 2, 2023
Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation of <i>EYA3/EFCAB4b</i>
Usha R Dutta, Amrita Bhattacherjee, Ashish Bahal, et al.
Gynecologic and Obstetric Investigation
|
November 7, 2006
MTHFR 677C-->T and 1298A-->C polymorphisms: evaluation of maternal genotypic risk and association with level of neural tube defect
Ashwin Dalal, Mandakini Pradhan, Deepshikha Tiwari, et al.
Journal of Inherited Metabolic Disease
|
August 27, 2013
Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI
Piranit Nik Kantaputra, Hülya Kayserili, Yeliz Güven, et al.
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of 13