21. Microcephalic primordial dwarfism with predominant Meier–Gorlin phenotype, ichthyosis, and multiple joint deformities—Further expansion of DONSON Cell Cycle‐opathy phenotypic spectrum. Issue 7 (17th March 2022) Authors: Nerakh, Gayatri; Vineeth, Venugopal S.; Tallapaka, Karthik; Nair, Lekshmi; Dalal, Ashwin; Aggarwal, Shagun Journal: American journal of medical genetics Issue: Volume 188:Issue 7(2022) Page Start: 2139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
22. Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea. (5th November 2012) Authors: Dutta, Usha R.; Pidugu, Vijaya Kumar; Dalal, Ashwin Other Names: Grant S. F. A. Academic Editor.; Rajcan-Separovic E. Academic Editor. Journal: Case reports in genetics Issue: Volume 2012(2012) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
23. Molecular Diagnostics. (3rd September 2013) Authors: Kesari, Akanchha; Dalal, Ashwin; Lal, Girdhari; Pandey, Sachchida Nand Journal: BioMed research international Issue: Volume 2013(2013) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
24. Molecular studies on parents after autopsy identify recombinant GBA gene in a case of Gaucher disease with ichthyosis phenotype. (14th July 2015) Authors: Aggarwal, Shagun; Jain, S. Jamal Mohamed Nurul; Bhowmik, Aneek D.; Tandon, Ashwani; Dalal, Ashwin Journal: American journal of medical genetics Issue: Volume 167:Number 11(2015:Nov.) Page Start: 2858 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
25. Mosaic paternal uniparental isodisomy of 15q11-q13 region causing Angelman phenotype. Issue 4 (October 2019) Authors: Narayanan, Dhanya Lakshmi; Ranganath, Prajnya; Balakrishnan, Surya; Dalal, Ashwin Journal: Clinical dysmorphology Issue: Volume 28:Issue 4(2019:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
26. Muscle spasms as presenting feature of Nivelon‐Nivelon‐Mabile syndrome. Issue 1 (22nd October 2022) Authors: Saini, Neelam; Das Bhowmik, Aneek; Yareeda, Sireesha; Venkatapuram, Vijayasree; Jabeen, Shaik Afshan; Tallapaka, Karthik; Dalal, Ashwin; Aggarwal, Shagun Journal: American journal of medical genetics Issue: Volume 191:Issue 1(2023) Page Start: 238 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
27. Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. Issue 6 (25th March 2014) Authors: Stephen, Joshi; Shukla, Anju; Dalal, Ashwin; Girisha, Katta Mohan; Shah, Hitesh; Gupta, Neerja; Kabra, Madhulika; Dabadghao, Preeti; Phadke, Shubha R. Journal: American journal of medical genetics Issue: Volume 164:Issue 6(2014.) Page Start: 1482 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
28. Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey!. (2nd January 2023) Authors: Ranganath, Priya; VS, Vineeth; Rungsung, Ikromi; Dalal, Ashwin; Aggarwal, Shagun Journal: Fetal and pediatric pathology Issue: Volume 42:Number 1(2023) Page Start: 103 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
29. Novel RSPO1 mutation causing 46, XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype. Issue 4 (25th March 2018) Authors: Tallapaka, Karthik; Venugopal, Vineeth; Dalal, Ashwin; Aggarwal, Shagun Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 1006 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
30. Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI. Issue 2 (22nd August 2013) Authors: Kantaputra, Piranit Nik; Kayserili, Hülya; Güven, Yeliz; Kantaputra, Warissara; Balci, Mehmet C.; Tanpaiboon, Pranoot; Uttarilli, Anusha; Dalal, Ashwin Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 2(2014) Page Start: 263 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗