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Clinical Genetics
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November 29, 2023
A novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper-IgD syndrome-like phenotype
Amit Jairaman, Vaishnavi Ashok Badiger, Spoorthy Raj, et al.
Clinical Dysmorphology
|
October 22, 2023
LPIN2 -related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature
Vaishnavi Ashok Badiger, Suma Balan, Sumanth Madan, et al.
Indian Journal of Pediatrics
|
August 24, 2023
Cleavage Resistant RIP Kinase1 Induced Autoinflammatory Syndrome (CRIA) - A Novel Autoinflammatory Syndrome
Harikrishnan Gangadharan, Suma Balan, Dhanya Lakshmi Narayanan, et al.
American Journal of Medical Genetics. Part A
|
December 9, 2025
Impaired SERPINF1 Expression due to c.[-37C>A];[829_831del] Causes Osteogenesis Imperfecta VI
Vaishnavi Ashok Badiger, Sheela Nampoothiri, Meher Mounika Vangara, et al.
Clinical Dysmorphology
|
June 10, 2024
Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Swati Singh, Vaishnavi Ashok Badiger, Suma Balan, et al.
Human Genetics
|
December 21, 2024
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities
Naseebullah Kakar, Selinda Mascarenhas, Asmat Ali, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 6) with videos related to
Sort By:
Page
of 1
Clinical Genetics
|
November 29, 2023
A novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper-IgD syndrome-like phenotype
Amit Jairaman, Vaishnavi Ashok Badiger, Spoorthy Raj, et al.
Clinical Dysmorphology
|
October 22, 2023
LPIN2 -related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature
Vaishnavi Ashok Badiger, Suma Balan, Sumanth Madan, et al.
Indian Journal of Pediatrics
|
August 24, 2023
Cleavage Resistant RIP Kinase1 Induced Autoinflammatory Syndrome (CRIA) - A Novel Autoinflammatory Syndrome
Harikrishnan Gangadharan, Suma Balan, Dhanya Lakshmi Narayanan, et al.
American Journal of Medical Genetics. Part A
|
December 9, 2025
Impaired SERPINF1 Expression due to c.[-37C>A];[829_831del] Causes Osteogenesis Imperfecta VI
Vaishnavi Ashok Badiger, Sheela Nampoothiri, Meher Mounika Vangara, et al.
Clinical Dysmorphology
|
June 10, 2024
Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Swati Singh, Vaishnavi Ashok Badiger, Suma Balan, et al.
Human Genetics
|
December 21, 2024
Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities
Naseebullah Kakar, Selinda Mascarenhas, Asmat Ali, et al.
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of 1