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Molecular Syndromology
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June 14, 2019
Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant
Eden Faye, Peggy Modaff, Richard Pauli, et al.
American Journal of Medical Genetics. Part A
|
December 7, 2013
Airway malacia in children with achondroplasia
Kimberly E Dessoffy, Peggy Modaff, Richard M Pauli
American Journal of Medical Genetics. Part A
|
November 16, 2010
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family
Ellen Dwyer, James Hyland, Peggy Modaff, et al.
American Journal of Medical Genetics. Part A
|
August 3, 2016
Syringomyelia in hereditary multiple exostosis
Janet M Legare, Peggy Modaff, Bermans J Iskandar, et al.
Journal of Genetic Counseling
|
February 6, 2007
The effect of disruptions during counseling on recall of genetic risk information: the case of cystic fibrosis
James Price Dillard, Lijiang Shen, Audrey Tluczek, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
January 16, 2021
Achondroplasia is associated with increased occurrence of apparent life-threatening events
Janet M Legare, Cory J Smid, Peggy Modaff, et al.
American Journal of Medical Genetics. Part A
|
October 26, 2020
Craniocervical junction issues after infancy in achondroplasia
Cory J Smid, Janet M Legare, Peggy Modaff, et al.
American Journal of Medical Genetics. Part A
|
April 11, 2003
Natural history of rhizomelic chondrodysplasia punctata
Amy L White, Peggy Modaff, Francesca Holland-Morris, et al.
Orphanet Journal of Rare Diseases
|
October 24, 2020
Apparently benign craniocervical signs in achondroplasia: "neurologic leftovers" identified through a retrospective dataset
Cory J Smid, Janet M Legare, Peggy Modaff, et al.
Pediatric Nephrology (Berlin, Germany)
|
February 25, 2022
Real-world effectiveness of burosumab in children with X-linked hypophosphatemic rickets
Neil J Paloian, Blaise Nemeth, Mark Sharafinski, et al.
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of 3
Search research articles
Search
Showing results (1-10 of 29) with videos related to
Sort By:
Page
of 3
Molecular Syndromology
|
June 14, 2019
Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant
Eden Faye, Peggy Modaff, Richard Pauli, et al.
American Journal of Medical Genetics. Part A
|
December 7, 2013
Airway malacia in children with achondroplasia
Kimberly E Dessoffy, Peggy Modaff, Richard M Pauli
American Journal of Medical Genetics. Part A
|
November 16, 2010
Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family
Ellen Dwyer, James Hyland, Peggy Modaff, et al.
American Journal of Medical Genetics. Part A
|
August 3, 2016
Syringomyelia in hereditary multiple exostosis
Janet M Legare, Peggy Modaff, Bermans J Iskandar, et al.
Journal of Genetic Counseling
|
February 6, 2007
The effect of disruptions during counseling on recall of genetic risk information: the case of cystic fibrosis
James Price Dillard, Lijiang Shen, Audrey Tluczek, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
January 16, 2021
Achondroplasia is associated with increased occurrence of apparent life-threatening events
Janet M Legare, Cory J Smid, Peggy Modaff, et al.
American Journal of Medical Genetics. Part A
|
October 26, 2020
Craniocervical junction issues after infancy in achondroplasia
Cory J Smid, Janet M Legare, Peggy Modaff, et al.
American Journal of Medical Genetics. Part A
|
April 11, 2003
Natural history of rhizomelic chondrodysplasia punctata
Amy L White, Peggy Modaff, Francesca Holland-Morris, et al.
Orphanet Journal of Rare Diseases
|
October 24, 2020
Apparently benign craniocervical signs in achondroplasia: "neurologic leftovers" identified through a retrospective dataset
Cory J Smid, Janet M Legare, Peggy Modaff, et al.
Pediatric Nephrology (Berlin, Germany)
|
February 25, 2022
Real-world effectiveness of burosumab in children with X-linked hypophosphatemic rickets
Neil J Paloian, Blaise Nemeth, Mark Sharafinski, et al.
Page
of 3