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Clericuzio-type poikiloderma with neutropenia in a patient from India.

  • Authors : Bishnoi A; Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.; Jamwal M

Subjects: Dyskeratosis Congenita/Dyskeratosis Congenita/Dyskeratosis Congenita/*diagnosis ; Mucins/Mucins/Mucins/*genetics ; Neutropenia/Neutropenia/Neutropenia/*diagnosis Poikiloderma with Neutropenia

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jan; Vol. 185 (1), pp. 278-281. Date of Electronic Publication: 2020 Oct 27.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited

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Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing: First South Asian study.

  • Authors : Aggarwal A; Department of Haematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.; Jamwal M

Subjects: Family* ; High-Throughput Nucleotide Sequencing* ; Mutation*

  • Source: British journal of haematology [Br J Haematol] 2020 Mar; Vol. 188 (5), pp. 784-795. Date of Electronic Publication: 2019 Oct 10.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium:

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A nonsense variant in the Hexokinase 1 gene (HK1) causing severe non-spherocytic haemolytic anaemia: genetic analysis exemplifies ambiguity due to multiple Isoforms.

  • Authors : Jamwal M; Department of Haematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.; Aggarwal A

Subjects: Anemia, Hemolytic/Anemia, Hemolytic/Anemia, Hemolytic/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*methods ; Hexokinase/Hexokinase/Hexokinase/*deficiency

  • Source: British journal of haematology [Br J Haematol] 2019 Sep; Vol. 186 (5), pp. e142-e145. Date of Electronic Publication: 2019 May 23.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium:

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