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Author/Creator Phadke, Shubha

1. Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India. Issue 2 (27th April 2022)

Authors:
Varshney, Kruti; Narayanachar, Sanjeeva Ghanti; Girisha, Katta M; Bhavani, Gandham SriLakshmi; Narayanan, Dhanyalakshmi; Phadke, Shubha; Nampoothiri, Sheela; Udupi, Gautham Arunachal; Raghupathy, Palany; Nair, Mohandas; Geetha, Thenral S; Bhat, Meenakshi
Journal:
Journal of medical genetics
Issue:
Volume 60:Issue 2(2023)
Page Start:
204
Record Type:
Journal Article
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2. COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum. Issue 8 (2nd May 2022)

Authors:
Mishra, Ranjana; Kulshreshtha, Samarth; Mandal, Kausik; Khurana, Ashok; Diego‐Álvarez, Dan; Pradas, Laura; Saxena, Renu; Phadke, Shubha; Moirangthem, Amita; Masih, Suzena; Sud, Seema; Verma, Ishwar Chander; Dua Puri, Ratna
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 8(2022)
Page Start:
2339
Record Type:
Journal Article
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3. Cornelia de Lange syndrome in diverse populations. Issue 2 (6th January 2019)

Authors:
Dowsett, Leah; Porras, Antonio R.; Kruszka, Paul; Davis, Brandon; Hu, Tommy; Honey, Engela; Badoe, Eben; Thong, Meow‐Keong; Leon, Eyby; Girisha, Katta M.; Shukla, Anju; Nayak, Shalini S.; Shotelersuk, Vorasuk; Megarbane, Andre; Phadke, Shubha; Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Ferr...
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 2(2019)
Page Start:
150
Record Type:
Journal Article
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4. Cornelia de Lange syndrome in diverse populations. Issue 2 (6th January 2019)

Authors:
Dowsett, Leah; Porras, Antonio R.; Kruszka, Paul; Davis, Brandon; Hu, Tommy; Honey, Engela; Badoe, Eben; Thong, Meow‐Keong; Leon, Eyby; Girisha, Katta M.; Shukla, Anju; Nayak, Shalini S.; Shotelersuk, Vorasuk; Megarbane, Andre; Phadke, Shubha; Sirisena, Nirmala D.; Dissanayake, Vajira H. W.; Ferr...
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 2(2019)
Page Start:
150
Record Type:
Journal Article
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5. Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients. Issue 1 (15th August 2020)

Authors:
Nampoothiri, Sheela; Yesodharan, Dhanya; Bhattacherjee, Amrita; Ahamed, Hisham; Puri, Ratna Dua; Gupta, Neerja; Kabra, Madhulika; Ranganath, Prajnya; Bhat, Meenakshi; Phadke, Shubha; Radha Rama Devi, Akella; Jagadeesh, Sujatha; Danda, Sumita; Sylaja, Padmavathy Narayana; Mandal, Kausik; Bijarnia‐...
Journal:
JIMD reports
Issue:
Volume 56:Issue 1(2020)
Page Start:
82
Record Type:
Journal Article
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6. First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics. Issue 6 (25th March 2019)

Authors:
Rauen, Katherine A.; Alsaegh, Abeer; Ben‐Shachar, Shay; Berman, Yemima; Blakeley, Jaishri; Cordeiro, Isabel; Elgersma, Ype; Evans, D. Gareth; Fisher, Michael J.; Frayling, Ian M.; George, Joshi; Huson, Susan M.; Kerr, Bronwyn; Khire, Uday; Korf, Bruce; Legius, Eric; Messiaen, Ludwine; van Minkele...
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 6(2019)
Page Start:
1091
Record Type:
Journal Article
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9. SMARCE1, a rare cause of Coffin–Siris Syndrome: Clinical description of three additional cases. Issue 8 (5th June 2016)

Authors:
Zarate, Yuri A.; Bhoj, Elizabeth; Kaylor, Julie; Li, Dong; Tsurusaki, Yoshinori; Miyake, Noriko; Matsumoto, Naomichi; Phadke, Shubha; Escobar, Luis; Irani, Afifa; Hakonarson, Hakon; Schrier Vergano, Samantha A.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 8(2016)
Page Start:
1967
Record Type:
Journal Article
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