Beena Suresh

发表

Ptosis as a unique hallmark for autosomal recessive WNT1‐associated osteogenesis imperfecta

N. Elçioglu, S. Nampoothiri, S. Turan, 2019, American journal of medical genetics. Part A.

Bain type of X‐linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2

K. Girisha, A. Shukla, S. Bielas, 2020, American journal of medical genetics. Part A.

Biotinidase deficiency: an atypical presentation.

S. Jagadeesh, S. Seshadri, Beena Suresh, 2013, The National medical journal of India.

A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV)

I. Kurth, S. Jagadeesh, Beena Suresh, 2018, Neuro-ophthalmology.

Molecular Genetic Testing for Carrier-Prenatal Diagnosis and Computational Analysis of Oculocutaneous Albinism Type 1

S. Nampoothiri, J. Mary, R. Shenbagarathai, 2014 .

Prenatal Diagnosis for Primary Immunodeficiency Disorders—An Overview of the Indian Scenario

R. Uppuluri, Revathi Raj, M. Madkaikar, 2020, Frontiers in Immunology.

Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure

J. Majewski, R. Slim, Z. Hadipour, 2021, Clinical genetics.

Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the HK1 gene causing severe haemolytic anaemia with developmental delay in an Indian family

P. Warang, S. Jagadeesh, Beena Suresh, 2020, Journal of Clinical Pathology.

Pyridoxine-dependent epilepsy owing to antiquitin deficiency — mutation in the ALDH7A1 gene

E. Struys, S. Jagadeesh, Beena Suresh, 2013, Paediatrics and international child health.

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

David L. Bennett, T. Hornemann, S. Züchner, 2023, Brain : a journal of neurology.