Venugopal S. Vineeth

SERPINA11 related novel serpinopathy - A perinatal lethal disorder.

Journal: Clinical genetics

Published: March 02, 2024

Fetal phenotypes of Mendelian disorders: A descriptive study from India.

Journal: Prenatal diagnosis

Published: February 28, 2022

Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.

Journal: American journal of medical genetics. Part A

Published: September 08, 2021

Report of an Asian-Indian patient with Okur-Chung Syndrome and comparison of the clinical phenotype in different ethnic groups.

Journal: Clinical dysmorphology

Published: August 21, 2021

Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants.

Journal: American journal of medical genetics. Part A

Published: July 17, 2021

Exome sequencing for perinatal phenotypes: The significance of deep phenotyping.

Journal: Prenatal diagnosis

Published: May 28, 2019

Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.

Journal: Journal of human genetics

Published: September 01, 2018

Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.

Journal: Gene

Published: April 19, 2018

Utility of whole-exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive dystrophic epidermolysis bullosa in India - implications on diagnosis, prognosis and prenatal testing.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: March 08, 2018

Evaluation of in vitro sperm nuclear chromatin decondensation among different subgroups of infertile males in Mysore, India.

Journal: Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences

Published: March 13, 2012

SERPINA11 related novel serpinopathy - A perinatal lethal disorder.

SERPINA11 related novel serpinopathy - A perinatal lethal disorder.

Fetal phenotypes of Mendelian disorders: A descriptive study from India.

Fetal phenotypes of Mendelian disorders: A descriptive study from India.

Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.

Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.

Report of an Asian-Indian patient with Okur-Chung Syndrome and comparison of the clinical phenotype in different ethnic groups.

Report of an Asian-Indian patient with Okur-Chung Syndrome and comparison of the clinical phenotype in different ethnic groups.

Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants.

Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants.

Exome sequencing for perinatal phenotypes: The significance of deep phenotyping.

Exome sequencing for perinatal phenotypes: The significance of deep phenotyping.

Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.

Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.

Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.

Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.

Utility of whole-exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive dystrophic epidermolysis bullosa in India - implications on diagnosis, prognosis and prenatal testing.

Utility of whole-exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive dystrophic epidermolysis bullosa in India - implications on diagnosis, prognosis and prenatal testing.

Evaluation of in vitro sperm nuclear chromatin decondensation among different subgroups of infertile males in Mysore, India.

Evaluation of in vitro sperm nuclear chromatin decondensation among different subgroups of infertile males in Mysore, India.

Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.

Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.