| human | Q5 |
| P496 | ORCID iD | 0000-0001-7375-9892 |
| P1053 | ResearcherID | L-6965-2018 |
| P1153 | Scopus author ID | 6602767376 |
| P2397 | YouTube channel ID | UCZWAJYIZe8L9AaQX351rY2Q |
| P69 | educated at | Banaras Hindu University | Q806116 |
| P108 | employer | Post Graduate Institute of Medical Education and Research | Q7233633 |
| Post Graduate Institute of Medical Education and Research | Q7233637 | ||
| Sanjay Gandhi Post Graduate Institute of Medical Sciences | Q7418428 | ||
| All India Institute of Medical Sciences, New Delhi | Q15177600 | ||
| P106 | occupation | researcher | Q1650915 |
| Q35130977 | A case of short stature with anterior vertebral beaking |
| Q56331736 | A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans? |
| Q47673892 | A novel beta-globin mutation (HBB:c.107A>G; or codon 35 beta (A-->G)) at alpha-beta chain interfaces |
| Q114930457 | A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options |
| Q39102300 | Ascariasis-associated worm encephalopathy in a young child. |
| Q102221256 | COFS type 3 in an Indian family with antenatally detected arthrogryposis |
| Q47622206 | CRELD1 gene variants and atrioventricular septal defects in Down syndrome. |
| Q39826043 | Child with Mongolian spots and dysostosis multiplex. |
| Q33375516 | Chronic lymphocytic leukemia in India--a clinico-hematological profile |
| Q81427607 | Congenital scoliosis, supernumerary nipples and spina bifida occulta |
| Q37957083 | Craniosynostosis genetics: The mystery unfolds |
| Q84747587 | Cutaneous Rosai-Dorfman disease: presenting as massive bilateral eyelid swelling |
| Q44537232 | Cytochemical, immunophenotypic and ultrastructural characterization of acute leukemias: a prospective study of fifty cases: haematological malignancy |
| Q84769558 | Diagnosis of Down syndrome and detection of origin of nondisjunction by short tandem repeat analysis |
| Q39678048 | Distal arthrogryposis syndrome. |
| Q46600561 | Do alpha deletions influence hydroxyurea response in thalassemia intermedia? |
| Q44925642 | Effect of wheat grass therapy on transfusion requirement in beta-thalassemia major |
| Q51370531 | Efficacy of deferasirox in North Indian β-thalassemia major patients: a preliminary report. |
| Q43173488 | Evaluation of the genetic basis of phenotypic heterogeneity in north Indian patients with thalassemia major |
| Q57922449 | Fibular hemimelia with polysyndactyly: a case report |
| Q44411865 | Fulminant candida infection in an infant with Acrodermatitis Enteropathica |
| Q41769816 | Genetic Heterogeneity of Beta Globin Mutations among Asian-Indians and Importance in Genetic Counselling and Diagnosis. |
| Q37270864 | Genetic determinants of phenotype in beta-thalassemia. |
| Q81430646 | Hb Q India: is it always benign? |
| Q42642748 | Hemifacial microsomia with pulmonary hypoplasia |
| Q92033653 | Hepatomegaly with neutropenia: a girl with glycogen storage disease Ib |
| Q47271482 | High frequency of deletional alpha-thalassemia in beta-thalassemia trait: implications for genetic counseling |
| Q90042211 | Hunter syndrome with persistent thrombocytopenia |
| Q41932604 | Hypercortisolism and hypothyroidism in an infant with Smith-Lemli-Opitz syndrome. |
| Q97544145 | Indian child with novel variant in OFD1 gene |
| Q83926743 | Jaundice and alpha gene triplication in beta-thalassemia: association or causation? |
| Q45869511 | Knowledge and attitudes towards haemophilia: the family side and role of haemophilia societies |
| Q86926197 | Lissencephaly presenting with congenital hypothyroidism |
| Q33385661 | Long-term response to deferiprone therapy in Asian Indians. |
| Q48820269 | Macrocephaly-capillary malformation syndrome: three new cases |
| Q50739841 | Maternal serum second trimester screening for chromosomal disorders and neural tube defects in a government hospital of North India. |
| Q47107942 | Methylmalonic Acidemia with Novel MUT Gene Mutations |
| Q54325293 | Multiplex quantitative fluorescent polymerase chain reaction for detection of aneuploidies. |
| Q45217357 | Neurofibromatosis type 1 with intracranial hemorrhage and horseshoe kidney. |
| Q64240654 | Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder |
| Q83300138 | Non-invasive prenatal diagnosis: improved detection rates |
| Q52684908 | Novel mutation in a family with WNT1-related osteoporosis. |
| Q91700848 | Novel mutation in the CHST14 gene causing musculocontractural type of Ehlers-Danlos syndrome |
| Q40095818 | Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. |
| Q53061955 | Pediatric disorders of sex development. |
| Q92674250 | Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series |
| Q83974167 | Prenatal diagnosis of Sheldon Hall syndrome |
| Q34672718 | Primordial dwarfism: overview of clinical and genetic aspects. |
| Q43174148 | Response to zolendronic acid in children with type III osteogenesis imperfecta |
| Q30577877 | Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature |
| Q74089665 | SMN2-deletion in childhood-onset spinal muscular atrophy |
| Q54372685 | STR markers for detecting heterogeneity in Indian population. |
| Q50595082 | Seizure as the presenting manifestation in Griscelli syndrome type 2. |
| Q53052522 | Severe liver dysfunction in an infant with cystic fibrosis masquerading as metabolic liver disease. |
| Q84466377 | Sickle cell anemia--molecular diagnosis and prenatal counseling: SGPGI experience |
| Q97543929 | Sotos syndrome in two children from India |
| Q45888418 | Spontaneous hematomyelia in a child with hemophilia A: a case report |
| Q84946038 | Thalassemia intermedia with iron deficiency |
| Q37161998 | The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery |
| Q35236644 | The effect of prophylactic antipyretic administration on post-vaccination adverse reactions and antibody response in children: a systematic review |
| Q37639505 | The expanding spectrum of thalassemia intermedia. |
| Q42069449 | The first case report of a patient with coexisting hemophilia B and Down syndrome |
| Q46752314 | Urinary malondialdehyde levels in newborns following delivery room resuscitation |
| Q52364894 | Utility of whole exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive Dystrophic Epidermolysis Bullosa in India - implications on diagnosis, prognosis and prenatal testing. |
| Q99352847 | Wolf-Hirschhorn syndrome: A case series from India |
| Q84557406 | Xmn1-G γ polymorphism and clinical predictors of severity of disease in β-thalassemia intermedia |
| Q38136926 | Zellweger syndrome: prenatal and postnatal growth failure with epiphyseal stippling. |
| Q89304613 | Zoledronate for Osteogenesis imperfecta: evaluation of safety profile in children |
Search more.