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Human Mutation
|
February 4, 2014
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome
Roberta Piras, Francesca Chiappe, Ilaria La Torraca, et al.
Journal of Inherited Metabolic Disease
|
September 2, 2022
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria
Karina Grohmann-Held, Peter Burgard, Christoph G O Baerwald, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 3, 2021
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study
Ravi Savarirayan, Louise Tofts, Melita Irving, et al.
Orphanet Journal of Rare Diseases
|
February 15, 2022
Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort study
Helge Hebestreit, Cornelia Zeidler, Christopher Schippers, et al.
Archives of Gynecology and Obstetrics
|
October 4, 2016
M -Th Wyss-Desserich, R Caduff-Joos, P Wyss, et al.
Orphanet Journal of Rare Diseases
|
August 31, 2018
Can untreated PKU patients escape from intellectual disability? A systematic review
Danique van Vliet, Annemiek M J van Wegberg, Kirsten Ahring, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 15, 2022
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study
Ravi Savarirayan, Melita Irving, Paul Harmatz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 15, 2026
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension Study
Francjan van Spronsen, Heidi Peters, Lali Margvelashvili, et al.
Annals of Neurology
|
December 6, 2017
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
Roeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, et al.
Page
of 36
Search research articles
Search
Showing results (351-360 of 359) with videos related to
Sort By:
Page
of 36
You have reached the last page of results.
This site can display upto 359 results.
Human Mutation
|
February 4, 2014
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome
Roberta Piras, Francesca Chiappe, Ilaria La Torraca, et al.
Journal of Inherited Metabolic Disease
|
September 2, 2022
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria
Karina Grohmann-Held, Peter Burgard, Christoph G O Baerwald, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 3, 2021
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study
Ravi Savarirayan, Louise Tofts, Melita Irving, et al.
Orphanet Journal of Rare Diseases
|
February 15, 2022
Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort study
Helge Hebestreit, Cornelia Zeidler, Christopher Schippers, et al.
Archives of Gynecology and Obstetrics
|
October 4, 2016
M -Th Wyss-Desserich, R Caduff-Joos, P Wyss, et al.
Orphanet Journal of Rare Diseases
|
August 31, 2018
Can untreated PKU patients escape from intellectual disability? A systematic review
Danique van Vliet, Annemiek M J van Wegberg, Kirsten Ahring, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 15, 2022
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study
Ravi Savarirayan, Melita Irving, Paul Harmatz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 15, 2026
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension Study
Francjan van Spronsen, Heidi Peters, Lali Margvelashvili, et al.
Annals of Neurology
|
December 6, 2017
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
Roeltje R Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, et al.
Page
of 36