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Beena Suresh

Showing results (1-10 of 11) with videos related to

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Neuro-Ophthalmology (Aeolus Press)|November 20, 2019
A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV)Beena Suresh, Vaishnavi Reddy, Ingo Kurth, et al.
The National Medical Journal of India|September 27, 2013
Biotinidase deficiency: an atypical presentationSujatha Jagadeesh, Beena Suresh, Suresh Seshadri, et al.
Journal of Clinical Pathology|December 28, 2020
Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the <i>HK1</i> gene causing severe haemolytic anaemia with developmental delay in an Indian familyRashmi Dongerdiye, Sujatha Jagadeesh, Beena Suresh, et al.
Molecular Genetics & Genomic Medicine|February 24, 2024
A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriageManqi Liang, Beena Suresh, Eric Bareke, et al.
Paediatrics and International Child Health|August 9, 2013
Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 geneSujatha Jagadeesh, Beena Suresh, V Murugan, et al.
American Journal of Medical Genetics. Part A|March 22, 2019
Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfectaSheela Nampoothiri, Brecht Guillemyn, Nursel Elcioglu, et al.
American Journal of Medical Genetics. Part A|November 1, 2019
Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2Puneeth H Somashekar, Dhanya L Narayanan, Sujatha Jagadeesh, et al.
Clinical Genetics|February 14, 2021
Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failureMaryam Rezaei, Beena Suresh, Eric Bereke, et al.
Frontiers in Immunology|December 28, 2020
Prenatal Diagnosis for Primary Immunodeficiency Disorders-An Overview of the Indian ScenarioReetika Malik Yadav, Maya Gupta, Aparna Dalvi, et al.
Orphanet Journal of Rare Diseases|August 13, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centreJayesh Sheth, Aadhira Nair, Frenny Sheth, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Neuro-Ophthalmology (Aeolus Press)|November 20, 2019
A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV)Beena Suresh, Vaishnavi Reddy, Ingo Kurth, et al.
The National Medical Journal of India|September 27, 2013
Biotinidase deficiency: an atypical presentationSujatha Jagadeesh, Beena Suresh, Suresh Seshadri, et al.
Journal of Clinical Pathology|December 28, 2020
Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the <i>HK1</i> gene causing severe haemolytic anaemia with developmental delay in an Indian familyRashmi Dongerdiye, Sujatha Jagadeesh, Beena Suresh, et al.
Molecular Genetics & Genomic Medicine|February 24, 2024
A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriageManqi Liang, Beena Suresh, Eric Bareke, et al.
Paediatrics and International Child Health|August 9, 2013
Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 geneSujatha Jagadeesh, Beena Suresh, V Murugan, et al.
American Journal of Medical Genetics. Part A|March 22, 2019
Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfectaSheela Nampoothiri, Brecht Guillemyn, Nursel Elcioglu, et al.
American Journal of Medical Genetics. Part A|November 1, 2019
Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2Puneeth H Somashekar, Dhanya L Narayanan, Sujatha Jagadeesh, et al.
Clinical Genetics|February 14, 2021
Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failureMaryam Rezaei, Beena Suresh, Eric Bereke, et al.
Frontiers in Immunology|December 28, 2020
Prenatal Diagnosis for Primary Immunodeficiency Disorders-An Overview of the Indian ScenarioReetika Malik Yadav, Maya Gupta, Aparna Dalvi, et al.
Orphanet Journal of Rare Diseases|August 13, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centreJayesh Sheth, Aadhira Nair, Frenny Sheth, et al.
Pageof 2