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Neurology
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September 7, 2019
Combination therapy with nusinersen and AVXS-101 in SMA type 1
Bo Hoon Lee, Erin Collins, Leann Lewis, et al.
Journal of Neuroimmunology
|
November 2, 2025
Longitudinally-extensive transverse myelitis in the setting of recent Mycoplasma infection: Case series
Kyra Curtis, Erin Hendry, Zachary Christensen, et al.
International Journal of Neonatal Screening
|
April 23, 2024
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening
Mei Lietsch, Kee Chan, Jennifer Taylor, et al.
International Journal of Neonatal Screening
|
April 24, 2026
<i>COASY</i>-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I
Zinandré Stander, Amy L White, Matthew Lynch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 19, 2020
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy
Denise M Kay, Colleen F Stevens, April Parker, et al.
Neurology
|
July 14, 2022
Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years
Bo Hoon Lee, Stella Deng, Claudia A Chiriboga, et al.
Muscle & Nerve
|
October 7, 2024
Outcomes of early-treated infants with spinal muscular atrophy: A multicenter, retrospective cohort study
Natalie L Goedeker, Amanda Rogers, Mark Fisher, et al.
American Journal of Medical Genetics. Part A
|
November 19, 2017
Expanding the neurodevelopmental phenotype of PURA syndrome
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, et al.
American Journal of Medical Genetics. Part A
|
March 30, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
Sarah E Sheppard, Ian M Campbell, Margaret H Harr, et al.
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of 2
Search research articles
Search
Showing results (11-20 of 19) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 19 results.
Neurology
|
September 7, 2019
Combination therapy with nusinersen and AVXS-101 in SMA type 1
Bo Hoon Lee, Erin Collins, Leann Lewis, et al.
Journal of Neuroimmunology
|
November 2, 2025
Longitudinally-extensive transverse myelitis in the setting of recent Mycoplasma infection: Case series
Kyra Curtis, Erin Hendry, Zachary Christensen, et al.
International Journal of Neonatal Screening
|
April 23, 2024
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening
Mei Lietsch, Kee Chan, Jennifer Taylor, et al.
International Journal of Neonatal Screening
|
April 24, 2026
<i>COASY</i>-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I
Zinandré Stander, Amy L White, Matthew Lynch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 19, 2020
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy
Denise M Kay, Colleen F Stevens, April Parker, et al.
Neurology
|
July 14, 2022
Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years
Bo Hoon Lee, Stella Deng, Claudia A Chiriboga, et al.
Muscle & Nerve
|
October 7, 2024
Outcomes of early-treated infants with spinal muscular atrophy: A multicenter, retrospective cohort study
Natalie L Goedeker, Amanda Rogers, Mark Fisher, et al.
American Journal of Medical Genetics. Part A
|
November 19, 2017
Expanding the neurodevelopmental phenotype of PURA syndrome
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, et al.
American Journal of Medical Genetics. Part A
|
March 30, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
Sarah E Sheppard, Ian M Campbell, Margaret H Harr, et al.
Page
of 2