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J Amor

Showing results (311-320 of 430) with videos related to

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Genetics in Medicine Open|December 9, 2025
Childhood outcomes of fetal genomic copy-number variants: The prenatal microarray cohort studyJacqui McCoy, Cecilia Pynaker, Sharon Lewis, et al.
European Journal of Human Genetics : EJHG|January 13, 2026
Childhood motor speech disorders: who to prioritise for genetic testingHalianna Van Niel, Mariana Lauretta, Emma Baker, et al.
American Journal of Human Genetics|April 9, 2011
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesisPleasantine Mill, Paul J Lockhart, Elizabeth Fitzpatrick, et al.
Transplantation|August 15, 2022
Diabetic Neuropathy Is Independently Associated With Worse Graft Outcomes and Incident Cardiovascular Disease After Pancreas Transplantation: A Retrospective Cohort Study in Type 1 DiabetesLaura Boswell, Pedro Ventura-Aguiar, Aida Alejaldre, et al.
Diabetes Therapy : Research, Treatment and Education of Diabetes and Related Disorders|November 2, 2023
Midnight Cortisol is Associated with Changes in Systolic Blood Pressure and Diabetic Neuropathy in Subjects with Type 1 Diabetes Undergoing Simultaneous Kidney-Pancreas TransplantationLaura Boswell, Antonio J Amor, Enrique Montagud-Marrahi, et al.
Nature Communications|September 4, 2019
Assisted reproductive technologies are associated with limited epigenetic variation at birth that largely resolves by adulthoodBoris Novakovic, Sharon Lewis, Jane Halliday, et al.
American Journal of Medical Genetics. Part A|June 5, 2021
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutationsChloe A Stutterd, Alexa Kidd, Chris Florkowski, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Phenotypic variability of distal 22q11.2 copy number abnormalitiesTiong Yang Tan, Amanda Collins, Paul A James, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2018
FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohortsClaudine M Kraan, Quang M Bui, Mike Field, et al.
BJOG : an International Journal of Obstetrics and Gynaecology|January 22, 2013
Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?D Ganesamoorthy, D L Bruno, G McGillivray, et al.
Pageof 43

Showing results (311-320 of 430) with videos related to

Sort By:
Pageof 43
Genetics in Medicine Open|December 9, 2025
Childhood outcomes of fetal genomic copy-number variants: The prenatal microarray cohort studyJacqui McCoy, Cecilia Pynaker, Sharon Lewis, et al.
European Journal of Human Genetics : EJHG|January 13, 2026
Childhood motor speech disorders: who to prioritise for genetic testingHalianna Van Niel, Mariana Lauretta, Emma Baker, et al.
American Journal of Human Genetics|April 9, 2011
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesisPleasantine Mill, Paul J Lockhart, Elizabeth Fitzpatrick, et al.
Transplantation|August 15, 2022
Diabetic Neuropathy Is Independently Associated With Worse Graft Outcomes and Incident Cardiovascular Disease After Pancreas Transplantation: A Retrospective Cohort Study in Type 1 DiabetesLaura Boswell, Pedro Ventura-Aguiar, Aida Alejaldre, et al.
Diabetes Therapy : Research, Treatment and Education of Diabetes and Related Disorders|November 2, 2023
Midnight Cortisol is Associated with Changes in Systolic Blood Pressure and Diabetic Neuropathy in Subjects with Type 1 Diabetes Undergoing Simultaneous Kidney-Pancreas TransplantationLaura Boswell, Antonio J Amor, Enrique Montagud-Marrahi, et al.
Nature Communications|September 4, 2019
Assisted reproductive technologies are associated with limited epigenetic variation at birth that largely resolves by adulthoodBoris Novakovic, Sharon Lewis, Jane Halliday, et al.
American Journal of Medical Genetics. Part A|June 5, 2021
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutationsChloe A Stutterd, Alexa Kidd, Chris Florkowski, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Phenotypic variability of distal 22q11.2 copy number abnormalitiesTiong Yang Tan, Amanda Collins, Paul A James, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2018
FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohortsClaudine M Kraan, Quang M Bui, Mike Field, et al.
BJOG : an International Journal of Obstetrics and Gynaecology|January 22, 2013
Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?D Ganesamoorthy, D L Bruno, G McGillivray, et al.
Pageof 43