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- [1] Molecular Characterisation and Prenatal Diagnosis of Asparto-acylase Deficiency (Canavan Disease)-Report of Two Novel and Two Known Mutations from the Indian Subcontinent[J]. INDIAN JOURNAL OF PEDIATRICS, 2013, 80 (01): : 26 - 31Bijarnia, SunitaKohli, SudhaPuri, Ratna DuaJacob, Rintu J.Saxena, RenuJalan, AnilSistermans, Eric A.Mahmood, SaqibVerma, Ishwar Chander
- [2] PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation[J]. MEDICINA-LITHUANIA, 2022, 58 (11):Siavriene, EvelinaMaldziene, ZivileMikstiene, VioletaPetraityte, GundaRancelis, TautvydasDapkunas, JustasBurnyte, BiruteBenusiene, EgleSasnauskiene, AusraGrikiniene, JurgitaGriskeviciute, EgleUtkus, AlgirdasPreiksaitiene, Egle
- [3] The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; Report of two novel mutations[J]. HUMAN MUTATION, 1998, : S88 - S90Liu, GAral, BZabot, MTKamoun, PCeballos-Picot, I
- [4] Prenatal Diagnosis of Leukocyte Adhesion Deficiency Type-1 (Five Cases from Iran with Two New Mutations)[J]. IRANIAN JOURNAL OF ALLERGY ASTHMA AND IMMUNOLOGY, 2014, 13 (01) : 61 - 65Esmaeili, BehnazGhadami, MohsenFazlollahi, Mohammad RezaNiroomanesh, ShirinAtarod, LidaChavoshzadeh, ZahraMoradi, ZeinabAlizadeh, ZahraPourpak, Zahra
- [5] Symptomatic Heterozygotes and Prenatal Diagnoses in a Nonconsanguineous Family with Syndromic Combined Pituitary Hormone Deficiency Resulting from Two Novel LHX3 Mutations[J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2012, 97 (03): : E503 - E509Sobrier, Marie-LaureBrachet, CecileVie-Luton, Marie-PierrePerez, ChristelleCopin, BrunoLegendre, MarieHeinrichs, ClaudineAmselem, Serge
- [6] Molecular Evaluation of CEBPA Gene Mutation in Normal Karyotype Acute Myeloid Leukemia: A Comparison of Two Methods and Report of Novel CEBPA Mutations from Indian Acute Myeloid Leukemia Patients[J]. GENETIC TESTING AND MOLECULAR BIOMARKERS, 2012, 16 (07) : 707 - 715Ahmad, FirozRajput, SaketMandava, SwarnaDas, Bibhu Ranjan
- [7] Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant in GJA8 and GJA3[J]. FRONTIERS IN PEDIATRICS, 2022, 10Vanita, VanitaGoyal, ShiwaliTibrewal, ShailjaGanesh, Suma
- [8] During an ongoing pandemic of severe acute respiratory syndrome coronavirus 2, main question which has arisen in everyone's mind is about the immune response that may protect from reinfection. Coronaviruses are known for short-term immunity. Their ability of mutations enables them to escape host immunity, thus increasing chances of reinfection. Here we report two cases of reinfection among health care workers who presented with symptoms of COVID-19 disease, after 3 months of first infectious course. Such documentations are necessary for epidemiological purposes and also to monitor response of virus on re-exposure. © 2021 The Authors. Published by Elsevier Ltd.[J]. NEW MICROBES AND NEW INFECTIONS, 2021, 42Ahmed, A.Sana, F.Ikram, A.Yousaf, S.Khan, A.