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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 10, 2015
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening
Derek Wong, Silvia Tortorelli, Lisa Bishop, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 21, 2024
Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life
Ravi Savarirayan, Melita Irving, William R Wilcox, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
July 18, 2024
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome
Jenny P Garzon, Andrea Patete, Lindsey Aschbacher-Smith, et al.
Physical Review Letters
|
October 9, 2018
Mirage Andreev Spectra Generated by Mesoscopic Leads in Nanowire Quantum Dots
Z Su, A Zarassi, J-F Hsu, et al.
Med (New York, N.Y.)
|
December 31, 2024
Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study
Ravi Savarirayan, Melita Irving, William R Wilcox, et al.
Biomed Research International
|
August 12, 2024
Complete Blood Count Values Over Time in Young Children During the Dengue Virus Epidemic in the Dominican Republic From 2018 to 2020
Melissa E Day, Yonairy Collado Puello, Miguel E Mejía Sang, et al.
Molecular Syndromology
|
May 9, 2013
Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations
M Alders, A Mendola, L Adès, et al.
Journal of the Pediatric Infectious Diseases Society
|
December 20, 2022
The 2019-2020 Dengue Fever Epidemic: Genomic Markers Indicating Severity in Dominican Republic Children
Brittany N Simpson, Miguel E Mejía Sang, Yonairy Collado Puello, et al.
Human Molecular Genetics
|
May 26, 2019
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
Hanyin Cheng, Leah Gottlieb, Elaine Marchi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 18, 2021
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
Saskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, et al.
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Search research articles
Search
Showing results (121-130 of 155) with videos related to
Sort By:
Page
of 16
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 10, 2015
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening
Derek Wong, Silvia Tortorelli, Lisa Bishop, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 21, 2024
Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life
Ravi Savarirayan, Melita Irving, William R Wilcox, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
July 18, 2024
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome
Jenny P Garzon, Andrea Patete, Lindsey Aschbacher-Smith, et al.
Physical Review Letters
|
October 9, 2018
Mirage Andreev Spectra Generated by Mesoscopic Leads in Nanowire Quantum Dots
Z Su, A Zarassi, J-F Hsu, et al.
Med (New York, N.Y.)
|
December 31, 2024
Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study
Ravi Savarirayan, Melita Irving, William R Wilcox, et al.
Biomed Research International
|
August 12, 2024
Complete Blood Count Values Over Time in Young Children During the Dengue Virus Epidemic in the Dominican Republic From 2018 to 2020
Melissa E Day, Yonairy Collado Puello, Miguel E Mejía Sang, et al.
Molecular Syndromology
|
May 9, 2013
Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations
M Alders, A Mendola, L Adès, et al.
Journal of the Pediatric Infectious Diseases Society
|
December 20, 2022
The 2019-2020 Dengue Fever Epidemic: Genomic Markers Indicating Severity in Dominican Republic Children
Brittany N Simpson, Miguel E Mejía Sang, Yonairy Collado Puello, et al.
Human Molecular Genetics
|
May 26, 2019
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
Hanyin Cheng, Leah Gottlieb, Elaine Marchi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 18, 2021
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
Saskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, et al.
Page
of 16