Anju Shukla


Ontology type: schema:Person     


Person Info

NAME

Anju

SURNAME

Shukla

Publications in SciGraph latest 50 shown

  • 2019-01 Locus and allelic heterogeneity in five families with hereditary spastic paraplegia in JOURNAL OF HUMAN GENETICS
  • 2018-12 FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature in BMC MEDICAL GENETICS
  • 2018-11 Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-09 Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6 in NATURE
  • 2018-08 A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome in JOURNAL OF HUMAN GENETICS
  • 2018-05 RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6 in NATURE
  • 2018-05 Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-01 Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis in JOURNAL OF HUMAN GENETICS
  • 2017-12 India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin in BMC RESEARCH NOTES
  • 2017-09 A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome in JOURNAL OF HUMAN GENETICS
  • 2017-07 Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome in JOURNAL OF HUMAN GENETICS
  • 2017-05 A novel sequence variant in SFRP4 causing Pyle disease in JOURNAL OF HUMAN GENETICS
  • 2017-04 Complexities in Genotype-Phenotype Correlation and Genetic Counseling in Collagen VI - Related Myopathy in THE INDIAN JOURNAL OF PEDIATRICS
  • 2017-03 Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia in JOURNAL OF HUMAN GENETICS
  • 2016-09 Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene in THE INDIAN JOURNAL OF PEDIATRICS
  • 2015-01 Research letters in INDIAN PEDIATRICS
  • 2014-06 Fibrodysplasia Ossificans Progressiva: Three Indian Patients with Mutation in the ACVR1 Gene in THE INDIAN JOURNAL OF PEDIATRICS
  • 2013-02 Should factor V Leiden mutation and prothrombin gene polymorphism testing be done in women with recurrent miscarriage from North India? in ARCHIVES OF GYNECOLOGY AND OBSTETRICS
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