Aaron Chapla

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论文共 69 篇作者统计合作学者相似作者

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P227: High Carrier Frequency of CYP21A2 Hotspot Mutations in Southern India: Underscoring the Need for Genetic Testing in Congenital Adrenal Hyperplasia

Lavanya Ravichandran, Shriti Paul, ReKha A,Asha HS,Sarah Mathai,Anna Simon, Sumitha Danda,Nihal Thomas,Aaron Chapla

Genetics in Medicine Open (2024): 101124

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Congenital Adrenal Hyperplasia – A Comprehensive Review of Genetic Studies on 21-Hydroxylase Deficiency from India

Lavanya Ravichandran,Hesarghatta S Asha,Sarah Mathai,Nihal Thomas,Aaron Chapla

Indian journal of endocrinology and metabolismno. 2 (2024): 117-128

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A Novel Large Deletion in the EVER1 Gene in a Family with Epidermodysplasia Verruciformis from India

Adithya Christopher Godfred,Zachariah Thomas,Dincy Peter, Anjana Joseph,Lavanya Ravichandran,Anu Anna George,Susanne A. Pulimood,Pranay Gaikwad, Ramesh Babu,Meera Thomas,Nihal Thomas,Aaron Chapla

American Journal of Dermatopathologyno. 6 (2024): 373-376

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Clinical, Hormonal, and Genetic Spectrum of 46 XY Disorders of Sexual Development (DSD) Patients

Rajan Palui,Lavanya Ravichandran,Sadishkumar Kamalanathan,Aaron Chapla,Jayaprakash Sahoo,Niya Narayanan,Dukhabandhu Naik,Nihal Thomas

INDIAN JOURNAL OF PEDIATRICS (2024)

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Advocating Targeted Sequential Screening over Whole Exome Sequencing in 21-Hydroxylase Deficiency

Lavanya Ravichandran, Shriti Paul, A. Rekha,Deny Varghese,R Parthiban,H.S. Asha,Sarah Mathai,Anna Simon,Sumita Danda,Nihal Thomas,Aaron Chapla

Indian Journal of Pediatricspp.1-6, (2024)

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Focused Panel Sequencing Points to Genetic Predisposition in Non-Cirrhotic Intrahepatic Portal Hypertension Patients in India

Rekha Aaron, Kalpana Premkumar,Aaron Chapla,B. Vijayalekshmi,Uday Zachariah,Elwyn Elias,Thomas Alex Kodiatte,Dolly Daniel,John Jude,K. A. Balasubramanian,Sukesh C. Nair,Nihal Thomas,Banumathi Ramakrishna,C. E. Eapen,Ashish Goel

INDIAN JOURNAL OF GASTROENTEROLOGYno. 2 (2024): 434-442

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Etiological profile of young diabetes mellitus in south indian population

Sadishkumar Kamalanathan,Kg Rashmi,Jayaprakash Sahoo,Dukhabandhu Naik, Jabasteen J,Aaron Chapla,Nihal Thomas

Endocrine Abstracts (2024)

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High Carrier Frequency of CYP21A2 Gene Mutations in Southern India – Underscoring the Need for Genetic Testing in Congenital Adrenal Hyperplasia

Lavanya Ravichandran, Shriti Paul, Rekha A,Asha HS,Sarah Mathai,Anna Simon,Sumita Danda,Nihal Thomas,Aaron Chapla

ENDOCRINEno. 1 (2024): 363-369

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A Series of Genetically Confirmed Congenital Lipodystrophy and Diabetes in Adult Southern Indian Patients

Remya Rajan,Aaron Chapla,Jabasteen Johnson,Deny Varghese,H S Asha,Felix Jebasingh,Nitin Kapoor, Thomas V Paul,Nihal Thomas

Scientific reportsno. 1 (2024): 28277-28277

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CFTR Mutations and Phenotypic Correlations in People with Cystic Fibrosis: a Retrospective Study from a Single Centre in South India

Sneha D. Varkki,Rekha Aaron,Aaron Chapla,Sumita Danda,Priyanka Medhi, N. Jansi Rani,Grace R. Paul

LANCET REGIONAL HEALTH - SOUTHEAST ASIA (2024)

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论文共 69 篇作者统计合作学者相似作者