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Frontiers in Endocrinology
|
June 6, 2017
The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings
Illana Gozes, Marc C Patterson, Anke Van Dijck, et al.
Human Mutation
|
September 5, 2003
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1
Walter D Park, John F O'Brien, Patrick A Lundquist, et al.
Orphanet Journal of Rare Diseases
|
November 25, 2021
Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective
Eugen Mengel, Marc C Patterson, Michael Chladek, et al.
Molecular Genetics & Genomic Medicine
|
May 23, 2019
Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis
Troy C Lund, Weston P Miller, Julie B Eisengart, et al.
Molecular Genetics and Metabolism
|
January 12, 2015
Consensus statement on preventive and symptomatic care of leukodystrophy patients
Keith Van Haren, Joshua L Bonkowsky, Genevieve Bernard, et al.
Journal of Inherited Metabolic Disease
|
June 25, 2013
Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations
James E Wraith, Frédéric Sedel, Mercèdes Pineda, et al.
American Journal of Medical Genetics
|
July 13, 2002
Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7
Rong Mao, Arthur S Aylsworth, Nicholas Potter, et al.
Journal of Child Neurology
|
April 23, 2025
Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action
Kristina L Elvidge, Michelle A Farrar, John Christodoulou, et al.
Pediatric Neurology
|
February 22, 2025
Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action
Kristina L Elvidge, Michelle A Farrar, John Christodoulou, et al.
Pediatric Neurology
|
August 8, 2018
Jeavons Syndrome: Clinical Features and Response to Treatment
Kelsey M Smith, Paul E Youssef, Elaine C Wirrell, et al.
Page
of 12
Search research articles
Search
Showing results (71-80 of 115) with videos related to
Sort By:
Page
of 12
Frontiers in Endocrinology
|
June 6, 2017
The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings
Illana Gozes, Marc C Patterson, Anke Van Dijck, et al.
Human Mutation
|
September 5, 2003
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1
Walter D Park, John F O'Brien, Patrick A Lundquist, et al.
Orphanet Journal of Rare Diseases
|
November 25, 2021
Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective
Eugen Mengel, Marc C Patterson, Michael Chladek, et al.
Molecular Genetics & Genomic Medicine
|
May 23, 2019
Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis
Troy C Lund, Weston P Miller, Julie B Eisengart, et al.
Molecular Genetics and Metabolism
|
January 12, 2015
Consensus statement on preventive and symptomatic care of leukodystrophy patients
Keith Van Haren, Joshua L Bonkowsky, Genevieve Bernard, et al.
Journal of Inherited Metabolic Disease
|
June 25, 2013
Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations
James E Wraith, Frédéric Sedel, Mercèdes Pineda, et al.
American Journal of Medical Genetics
|
July 13, 2002
Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7
Rong Mao, Arthur S Aylsworth, Nicholas Potter, et al.
Journal of Child Neurology
|
April 23, 2025
Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action
Kristina L Elvidge, Michelle A Farrar, John Christodoulou, et al.
Pediatric Neurology
|
February 22, 2025
Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action
Kristina L Elvidge, Michelle A Farrar, John Christodoulou, et al.
Pediatric Neurology
|
August 8, 2018
Jeavons Syndrome: Clinical Features and Response to Treatment
Kelsey M Smith, Paul E Youssef, Elaine C Wirrell, et al.
Page
of 12