Manisha Goyal

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto et al. · Journal of Human Genetics · 2019 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri et al. · BMC Medical Genetics · 2019 · 67 citations · Full text

Life Sciences, Genetics, Pathology +17

Identification of a novel MKS locus defined by<i>TMEM107</i>mutation

Ranad Shaheen, Agaadir Almoisheer, Eissa Faqeih et al. · Human Molecular Genetics · 2015 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Adverse pregnancy outcome in patients with low pregnancy‐associated plasma protein‐<scp>A</scp>: The <scp>I</scp>ndian <scp>E</scp>xperience

Sangeeta Gupta, Manisha Goyal, Deepti Verma et al. · Journal of obstetrics and gynaecology research · 2015 · 18 citations · Full text

Public Health, Maternal Health, Obstetrics +15

Molecular Diagnosis of Infantile Neuro axonal Dystrophy by Next Generation Sequencing

Manisha Goyal, Sunita Bijarnia‐Mahay, Stephen F. Kingsmore et al. · The Indian Journal of Pediatrics · 2014 · 15 citations · Full text

Medicine, Molecular Genetics, Neurology +15