D. Saxena

发表

Consanguinity as an Adjunct Diagnostic Tool

S. Phadke, P. Srivastava, D. Saxena, 2016, The Indian Journal of Pediatrics.

The transcription factor Forkhead Box P3 gene variants affect idiopathic recurrent pregnancy loss.

S. Phadke, D. Saxena, S. Agrawal, 2015, Placenta.

Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting

M. Kabra, A. Moirangthem, S. Phadke, 2022, Egyptian Journal of Medical Human Genetics.

Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants

Suzena Masih, A. Moirangthem, S. Phadke, 2021, International journal of laboratory hematology.

Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing.

Suzena Masih, A. Moirangthem, S. Phadke, 2022, European journal of medical genetics.

Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India

A. Moirangthem, S. Phadke, P. Srivastava, 2021, American journal of medical genetics. Part A.

Atopic Dermatitis; Etio-Pathogenesis, An Overview

D. Saxena, A. Aggarwal, V. Sehgal, 2015, Indian journal of dermatology.

Koolen‐de Vries syndrome: First report of two unrelated Indian patients

A. Moirangthem, S. Phadke, D. Saxena, 2020 .

Recurrent miscarriage in North Indian population: a study of association of polymorphisms in genes coding for the natural killer: cell receptor natural killer group 2, member D and its ligand MHC class I chain-related protein A

S. Phadke, K. Mandal, D. Saxena, 2020 .

Carrier frequency of SMN1‐related spinal muscular atrophy in north Indian population: The need for population based screening program

A. Moirangthem, S. Phadke, K. Mandal, 2020, American journal of medical genetics. Part A.

Williams syndrome: a case series.

S. Phadke, D. Saxena, S. Kandasamy, 2014, Indian pediatrics.

Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance

K. Mandal, D. Saxena, V. Agrawal, 2021, Fetal and pediatric pathology.

Management of pregnant female with Haemophilia-A: A case report

D. Saxena, Amrit Gupta, S. Sahu, 2022, Journal of Family Medicine and Primary Care.

Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum.

A. Moirangthem, S. Phadke, K. Mandal, 2021, European journal of medical genetics.

Integrated Management Strategies for Epidermolysis Bullosa: Current Insights

D. Saxena, Haseena Sait, Somya Srivastava, 2022, International journal of general medicine.

Craniovertebral junction instability in Larsen syndrome: An institutional series and review of literature

D. Saxena, S. Behari, Ashutosh Kumar, 2020, Journal of craniovertebral junction & spine.

Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception

D. Saxena, S. Agrawal, V. Das, 2016, Journal of postgraduate medicine.

Prenatal diagnosis of congenital high airway obstruction syndrome: our experience from a tertiary care center

S. Phadke, D. Saxena, 2020 .

Monosomy 1p36: Report of a cohort of 13 Asian Indian patients

R. Kaur, M. Kabra, S. Phadke, 2022, American journal of medical genetics. Part A.

Cytogenetic microarray in structurally normal and abnormal foetuses: a five years experience elucidating increasing acceptance and clinical utility

S. Phadke, P. Srivastava, K. Mandal, 2019, Journal of Genetics.

Cytogenetic microarray in structurally normal and abnormal foetuses: a five years experience elucidating increasing acceptance and clinical utility

S. Phadke, P. Srivastava, K. Mandal, 2019, Journal of Genetics.

Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.

S. Kapoor, M. Kabra, A. Moirangthem, 2022, European journal of medical genetics.

Pycnodysostosis: mutation spectrum in five unrelated Indian children

S. Mukhopadhyay, M. Kabra, A. Moirangthem, 2016, Clinical dysmorphology.

Atopic Dermatitis: A Cross-Sectional (Descriptive) Study of 100 Cases

D. Saxena, A. Aggarwal, V. Sehgal, 2015, Indian Journal of Dermatology.

Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data

A. Moirangthem, S. Phadke, K. Mandal, 2023, Prenatal diagnosis.

Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants

Suzena Masih, A. Moirangthem, S. Phadke, 2021, Clinical dysmorphology.

Distal Arthrogryposis: A Clue to the Etiology of Neonatal Cholestasis

S. Phadke, K. Mandal, D. Saxena, 2020, The Indian Journal of Pediatrics.

Phenotypic and genotypic spectrum of CTSK variants in a cohort of Twenty-Five Indian patients with Pycnodysostosis.

S. Kapoor, M. Kabra, S. Phadke, 2021, European journal of medical genetics.

Partial hanging with multiple pesticide poisoning: A case report of a complex suicide

D. Saxena, 2022, Toxicologie Analytique et Clinique.

Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families

A. Moirangthem, S. Phadke, K. Mandal, 2023, neurogenetics.

A novel heterozygous missense mutation in uromodulin gene in an Indian family with familial juvenile hyperuricemic nephropathy

S. Phadke, P. Srivastava, D. Saxena, 2016, Indian journal of nephrology.

Red cell alloimmunization and associated risk factors in multiply transfused thalassemia patients: A prospective cohort study conducted at a tertiary care center in Northern India

K. Mandal, D. Saxena, P. Elhence, 2023, Asian journal of transfusion science.