Publications by authors named "Periyasamy Radhakrishnan"

8Publications

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.

Am J Hum Genet 2020 08 23;107(2):293-310. Epub 2020 Jul 23.

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413889PMC
August 2020

Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families.

Clin Dysmorphol 2020 Jul;29(3):123-126

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal.

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http://dx.doi.org/10.1097/MCD.0000000000000324DOI Listing
July 2020

Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence.

Am J Med Genet A 2020 04 27;182(4):804-807. Epub 2019 Dec 27.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.61473DOI Listing
April 2020

Meckel syndrome: Clinical and mutation profile in six fetuses.

Clin Genet 2019 12 21;96(6):560-565. Epub 2019 Aug 21.

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

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http://dx.doi.org/10.1111/cge.13623DOI Listing
December 2019

Occurrence of Synpolydactyly and Omphalocele in a Fetus with a Mutation.

J Pediatr Genet 2017 Sep 10;6(3):194-197. Epub 2017 Apr 10.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1055/s-0037-1602142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548533PMC
September 2017