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Beverly Hay

Showing results (1-10 of 8) with videos related to

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Journal of Pediatric Hematology/Oncology|September 4, 2025
Hematologic Variations in Children With Down SyndromeGolda Grinberg, Gwen Sokoloff, Beverly Hay, et al.
Pediatric Dermatology|January 4, 2014
Dystrophic epidermolysis bullosa associated with amniotic band syndromeHaley Snadecki, Vincent Criscione, Alisha Jaquith, et al.
Pediatric Dermatology|July 30, 2016
Multiple Café au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1Jessica St John, Heather Summe, Courtney Csikesz, et al.
Clinical Case Reports|July 7, 2017
Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosisJennifer Kane, Kristen Berrebi, Riley McLean, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo mutations in PURA are associated with hypotonia and developmental delayAkemi J Tanaka, Renkui Bai, Megan T Cho, et al.
European Journal of Human Genetics : EJHG|April 16, 2009
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defectsEmma Hilton, Jennifer Johnston, Sandra Whalen, et al.
Human Mutation|September 27, 2016
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational ProspectsKoutaro Yokote, Sirisak Chanprasert, Lin Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 familiesMichael D Fountain, Emmelien Aten, Megan T Cho, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Journal of Pediatric Hematology/Oncology|September 4, 2025
Hematologic Variations in Children With Down SyndromeGolda Grinberg, Gwen Sokoloff, Beverly Hay, et al.
Pediatric Dermatology|January 4, 2014
Dystrophic epidermolysis bullosa associated with amniotic band syndromeHaley Snadecki, Vincent Criscione, Alisha Jaquith, et al.
Pediatric Dermatology|July 30, 2016
Multiple Café au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1Jessica St John, Heather Summe, Courtney Csikesz, et al.
Clinical Case Reports|July 7, 2017
Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosisJennifer Kane, Kristen Berrebi, Riley McLean, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo mutations in PURA are associated with hypotonia and developmental delayAkemi J Tanaka, Renkui Bai, Megan T Cho, et al.
European Journal of Human Genetics : EJHG|April 16, 2009
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defectsEmma Hilton, Jennifer Johnston, Sandra Whalen, et al.
Human Mutation|September 27, 2016
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational ProspectsKoutaro Yokote, Sirisak Chanprasert, Lin Lee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 familiesMichael D Fountain, Emmelien Aten, Megan T Cho, et al.
Pageof 1