Publications by authors named "Beena Suresh"

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Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Jayesh Sheth, Aadhira Nair, Frenny Sheth, Manali Ajagekar, Tejasvi Dhondekar, Beena Suresh

Orphanet J Rare Dis· August 2024

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A homozygous stop codon in HORMAD2 in a patient with recurrent digynic triploid miscarriage.
Manqi Liang, Beena Suresh, Eric Bareke, Sanaa Choufani, Sujatha Jagadeesh

Mol Genet Genomic Med· February 2024

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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Annette Lischka, Katja Eggermann, Christopher J Record, Maike F Dohrn, Petra Laššuthová, Beena Suresh

Brain· December 2023

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Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the gene causing severe haemolytic anaemia with developmental delay in an Indian family.
Rashmi Dongerdiye, Sujatha Jagadeesh, Beena Suresh, Aruna Rajendran, Rati Devendra

J Clin Pathol· October 2021

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Prenatal Diagnosis for Primary Immunodeficiency Disorders-An Overview of the Indian Scenario.
Reetika Malik Yadav, Maya Gupta, Aparna Dalvi, Umair Ahmed Bargir, Gouri Hule, Suresh Seshadri, Beena Suresh

Front Immunol· June 2021

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Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.
Maryam Rezaei, Beena Suresh, Eric Bereke, Zahra Hadipour, Monica Aguinaga

Clin Genet· June 2021

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Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.
Puneeth H Somashekar, Dhanya L Narayanan, Sujatha Jagadeesh, Beena Suresh, Reddy D Vaishnavi

Am J Med Genet A· January 2020

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A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV).
Beena Suresh, Vaishnavi Reddy, Ingo Kurth, Sujatha Jagadeesh

Neuroophthalmology· November 2019

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Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta.
Sheela Nampoothiri, Brecht Guillemyn, Nursel Elcioglu, Sujatha Jagadeesh, Dhanya Yesodharan, Beena Suresh

Am J Med Genet A· June 2019

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Usefulness of fetal autopsy in the diagnosis of blomstrand chondrodysplasia: a report of three cases.
Suresh Beena, Lata Murlidhar, Suresh Seshadri, Sujatha Jagadeesh, Indrani Suresh

J Matern Fetal Neonatal Med· May 2017

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Biotinidase deficiency: an atypical presentation.
Sujatha Jagadeesh, Beena Suresh, Suresh Seshadri, Yoichi Suzuki

Natl Med J India· January 2014

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Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene.
Sujatha Jagadeesh, Beena Suresh, V Murugan, S Suresh, G S Salomans

Paediatr Int Child Health· May 2013

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