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Clinical Dysmorphology
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July 14, 2025
A de-novo frameshift variant in ZFHX4 associated with a recognisable neurodevelopmental disorder: a case report
Himanshu Goel, Sheridan O'Donnell
Molecular Genetics & Genomic Medicine
|
September 5, 2025
De Novo GLI2 Missense Variant in a Child With Isolated Hypopituitarism and Craniofacial Anomalies: Expanding the Phenotypic Spectrum
Himanshu Goel, Katrina Harrison
The Journal of Obstetrics and Gynaecology Research
|
July 30, 2010
Reply to cigarette smoking and glutathione S-transferase M1 polymorphism associated with risk for uterine cervical cancer
Charu Lata Jindal, Himanshu Goel
European Journal of Haematology
|
July 17, 2010
Vacuolated lymphocytes–a diagnostic clue
Kottayam Radhakrishnan, Himanshu Goel, Chris Barnes
Prenatal Diagnosis
|
June 5, 2007
Intrafamilial variability in Fraser syndrome
Pankaj Prasun, Mandakini Pradhan, Himanshu Goel
American Journal of Medical Genetics. Part A
|
October 16, 2023
EED related overgrowth: First report of multiple members in a single family
Himanshu Goel, Sheridan O'Donnell, Matthew Edwards
JAMA
|
September 9, 2010
Pediatric mortality due to inborn errors of metabolism in Victoria, Australia: a population-based study
Himanshu Goel, Allison Lusher, Avihu Boneh
Ophthalmic Genetics
|
July 11, 2020
Pseudoxanthoma elasticum and retinitis pigmentosa: dual diagnosis of recessive conditions with ophthalmological consequences
Disha Katiyar, Peter Davies, Himanshu Goel
European Journal of Medical Genetics
|
November 1, 2020
Pathogenic nonsense variant in NFIB in another patient with dysmorphism, Autism Spectrum Disorder, agenesis of the corpus callosum, and intellectual disability
Anupam Canchi Arun Rao, Himanshu Goel
Chemistry (Basel, Switzerland)
|
January 30, 2023
hERG Blockade Prediction by Combining Site Identification by Ligand Competitive Saturation and Physicochemical Properties
Himanshu Goel, Wenbo Yu, Alexander D MacKerell
Page
of 13
Search research articles
Search
Showing results (11-20 of 121) with videos related to
Sort By:
Page
of 13
Clinical Dysmorphology
|
July 14, 2025
A de-novo frameshift variant in ZFHX4 associated with a recognisable neurodevelopmental disorder: a case report
Himanshu Goel, Sheridan O'Donnell
Molecular Genetics & Genomic Medicine
|
September 5, 2025
De Novo GLI2 Missense Variant in a Child With Isolated Hypopituitarism and Craniofacial Anomalies: Expanding the Phenotypic Spectrum
Himanshu Goel, Katrina Harrison
The Journal of Obstetrics and Gynaecology Research
|
July 30, 2010
Reply to cigarette smoking and glutathione S-transferase M1 polymorphism associated with risk for uterine cervical cancer
Charu Lata Jindal, Himanshu Goel
European Journal of Haematology
|
July 17, 2010
Vacuolated lymphocytes–a diagnostic clue
Kottayam Radhakrishnan, Himanshu Goel, Chris Barnes
Prenatal Diagnosis
|
June 5, 2007
Intrafamilial variability in Fraser syndrome
Pankaj Prasun, Mandakini Pradhan, Himanshu Goel
American Journal of Medical Genetics. Part A
|
October 16, 2023
EED related overgrowth: First report of multiple members in a single family
Himanshu Goel, Sheridan O'Donnell, Matthew Edwards
JAMA
|
September 9, 2010
Pediatric mortality due to inborn errors of metabolism in Victoria, Australia: a population-based study
Himanshu Goel, Allison Lusher, Avihu Boneh
Ophthalmic Genetics
|
July 11, 2020
Pseudoxanthoma elasticum and retinitis pigmentosa: dual diagnosis of recessive conditions with ophthalmological consequences
Disha Katiyar, Peter Davies, Himanshu Goel
European Journal of Medical Genetics
|
November 1, 2020
Pathogenic nonsense variant in NFIB in another patient with dysmorphism, Autism Spectrum Disorder, agenesis of the corpus callosum, and intellectual disability
Anupam Canchi Arun Rao, Himanshu Goel
Chemistry (Basel, Switzerland)
|
January 30, 2023
hERG Blockade Prediction by Combining Site Identification by Ligand Competitive Saturation and Physicochemical Properties
Himanshu Goel, Wenbo Yu, Alexander D MacKerell
Page
of 13