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Sapna Sandal

Showing results (1-10 of 12) with videos related to

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BMJ Case Reports|September 26, 2018
Novel mutation in the <i>CHST14</i> gene causing musculocontractural type of Ehlers-Danlos syndromeSapna Sandal, Anupriya Kaur, Inusha Panigrahi
Indian Pediatrics|November 12, 2022
Progress in Diagnosis and Management of Intellectual Disability in India: A Journey Over Half-a-Century!Sunita Bijarnia-Mahay, Sapna Sandal, Praveen Suman
Indian Journal of Pediatrics|May 17, 2020
Hypophosphatemic Rickets with R179W Mutation in FGFR23 Gene - A Rare But Treatable Cause of Refractory RicketsSapna Sandal, Veronica Arora, Ishwar C Verma
Congenital Anomalies|September 9, 2020
ANO5-associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotypeSapna Sandal, Veronica Arora, Ishwar C Verma
Indian Journal of Pediatrics|July 2, 2022
Desmin Myopathy-A Masquerader of Infantile-Onset Pompe DiseaseAbdul Rauf, Hisham Ahamed, Mohamed Shanil, et al.
Tropical Doctor|July 29, 2021
A rare case of toxocariasis presenting with hypereosinophilic pericardial effusion and mycotic aneurysmSapna Sandal, Gopal Krishnan, Ashish Sharma, et al.
American Journal of Medical Genetics. Part A|February 22, 2022
Prenatal phenotypic spectrum of full trisomy 18 in an Indian cohortSapna Sandal, Sunita Bijarnia Mahay, Nandita Dimri Gupta, et al.
Clinical Dysmorphology|December 8, 2020
Alpha-mannosidosis in a family: natural history with an uncommon retinal dystrophySapna Sandal, Tinku Bali Razdan, Jyotsna Verma, et al.
Clinical Dysmorphology|September 25, 2021
Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type IISapna Sandal, Sunita Bijarnia Mahay, Deepti Gupta, et al.
Gene|February 15, 2026
A novel NMD-escaping STAG2 variant associated with syndromic neurodevelopmental delay, growth failure, and distinctive dysmorphism: expanding the phenotype in male patients and literature reviewFiroz Ahmad, Sapna Sandal, Alec Correa, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
BMJ Case Reports|September 26, 2018
Novel mutation in the <i>CHST14</i> gene causing musculocontractural type of Ehlers-Danlos syndromeSapna Sandal, Anupriya Kaur, Inusha Panigrahi
Indian Pediatrics|November 12, 2022
Progress in Diagnosis and Management of Intellectual Disability in India: A Journey Over Half-a-Century!Sunita Bijarnia-Mahay, Sapna Sandal, Praveen Suman
Indian Journal of Pediatrics|May 17, 2020
Hypophosphatemic Rickets with R179W Mutation in FGFR23 Gene - A Rare But Treatable Cause of Refractory RicketsSapna Sandal, Veronica Arora, Ishwar C Verma
Congenital Anomalies|September 9, 2020
ANO5-associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotypeSapna Sandal, Veronica Arora, Ishwar C Verma
Indian Journal of Pediatrics|July 2, 2022
Desmin Myopathy-A Masquerader of Infantile-Onset Pompe DiseaseAbdul Rauf, Hisham Ahamed, Mohamed Shanil, et al.
Tropical Doctor|July 29, 2021
A rare case of toxocariasis presenting with hypereosinophilic pericardial effusion and mycotic aneurysmSapna Sandal, Gopal Krishnan, Ashish Sharma, et al.
American Journal of Medical Genetics. Part A|February 22, 2022
Prenatal phenotypic spectrum of full trisomy 18 in an Indian cohortSapna Sandal, Sunita Bijarnia Mahay, Nandita Dimri Gupta, et al.
Clinical Dysmorphology|December 8, 2020
Alpha-mannosidosis in a family: natural history with an uncommon retinal dystrophySapna Sandal, Tinku Bali Razdan, Jyotsna Verma, et al.
Clinical Dysmorphology|September 25, 2021
Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type IISapna Sandal, Sunita Bijarnia Mahay, Deepti Gupta, et al.
Gene|February 15, 2026
A novel NMD-escaping STAG2 variant associated with syndromic neurodevelopmental delay, growth failure, and distinctive dysmorphism: expanding the phenotype in male patients and literature reviewFiroz Ahmad, Sapna Sandal, Alec Correa, et al.
Pageof 2