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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 22, 2023
Characterization of central manifestations in patients with Niemann-Pick disease type C
Raquel van Gool, Emma Golden, Benjamin Goodlett, et al.
Muscle & Nerve
|
September 25, 2025
A Multinational Study of Patient and Caregiver-Reported Insights Into ADSS1 Myopathy
Merve Koç Yekedüz, Yunjung Choi, Soo-Hyun Kim, et al.
Brain, Behavior, and Immunity
|
December 17, 2024
Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis
Raquel van Gool, Mariesa Cay, Boyu Ren, et al.
Research Square
|
July 3, 2026
Prefrontal Circuitry Abnormalities and Cognitive Impairment in Adolescents with Early- Onset Psychosis
Hanne Van Der Heijden, Saad Rahmat, Amanda Cao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 7, 2026
Evaluation of Electrical Impedance Myography as a Noninvasive Musculoskeletal Biomarker in Infantile- and Late-Onset Pompe Disease
Raquel van Gool, Nehal Shah, Amanda Cao, et al.
Journal of Inherited Metabolic Disease
|
April 23, 2026
Multimodal Noninvasive Biomarker Characterization of Structural and Functional Alterations in ADSS1-Deficient Myopathy
Merve Koç Yekedüz, Raquel van Gool, Hanne van der Heijden, et al.
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Search research articles
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Showing results (11-20 of 16) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 16 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 22, 2023
Characterization of central manifestations in patients with Niemann-Pick disease type C
Raquel van Gool, Emma Golden, Benjamin Goodlett, et al.
Muscle & Nerve
|
September 25, 2025
A Multinational Study of Patient and Caregiver-Reported Insights Into ADSS1 Myopathy
Merve Koç Yekedüz, Yunjung Choi, Soo-Hyun Kim, et al.
Brain, Behavior, and Immunity
|
December 17, 2024
Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis
Raquel van Gool, Mariesa Cay, Boyu Ren, et al.
Research Square
|
July 3, 2026
Prefrontal Circuitry Abnormalities and Cognitive Impairment in Adolescents with Early- Onset Psychosis
Hanne Van Der Heijden, Saad Rahmat, Amanda Cao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 7, 2026
Evaluation of Electrical Impedance Myography as a Noninvasive Musculoskeletal Biomarker in Infantile- and Late-Onset Pompe Disease
Raquel van Gool, Nehal Shah, Amanda Cao, et al.
Journal of Inherited Metabolic Disease
|
April 23, 2026
Multimodal Noninvasive Biomarker Characterization of Structural and Functional Alterations in ADSS1-Deficient Myopathy
Merve Koç Yekedüz, Raquel van Gool, Hanne van der Heijden, et al.
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of 2