Concepedia
Statistics
Publications
73
Citations
2.1K
H-Index
25
Active since
1991
Affiliations
Sir Ganga Ram Hospital(Current)
Sanjay Gandhi Post Graduate Institute of Medical Sciences
All India Institute of Medical Sciences
Centre for DNA Fingerprinting and Diagnostics
Amrita Institute of Medical Sciences and Research Centre
Ratna Dua Puri is an author at Sir Ganga Ram Hospital specializing in medicine, genetics, and public health.
Top concepts
MedicineGeneticsPublic HealthPathologyGenetic EpidemiologyEpidemiologyPediatricsDiagnosisMaternal HealthMolecular Genetics
Publications per year
1991–2024
Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia
Mohammed A. Aldahmesh, Jawahir Y. Mohamed, Hisham Alkuraya et al. · The American Journal of Human Genetics · 2011 · 183 citations · Full text
Mendelian Disorder, Genetic Disorder, Genetics +6
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants
Carola Dröge, Michele Bonus, Ulrich Baumann et al. · Journal of Hepatology · 2017 · 130 citations
Different Genetic Variants, High Number, Medicine +12
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice
Lara De Tomasi, Pierre David, Camille Humbert et al. · The American Journal of Human Genetics · 2017 · 113 citations · Full text
Urology, Developmental Biology, Medicine +7
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
Paranchai Boonsawat, Pascal Joset, Katharina Steindl et al. · Genetics in Medicine · 2019 · 82 citations · Full text
Mutations in <i>CEP120</i> cause Joubert syndrome as well as complex ciliopathy phenotypes
Susanne Roosing, Marta Romani, Mala Isrie et al. · Journal of Medical Genetics · 2016 · 63 citations · Full text
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