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Journal of Speech, Language, and Hearing Research : JSLHR
|
June 22, 2006
Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2
Lawrence D Shriberg, Kirrie J Ballard, J Bruce Tomblin, et al.
International Journal of Pediatric Endocrinology
|
July 12, 2012
Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology?
Emmanuelle S Topiol, Laurie A Minarich, Charles A Williams, et al.
Global Medical Genetics
|
July 15, 2025
Hemizygous contiguous gene deletion within Xq28 that includes BCAP31, ABCD1, SRPK3 and SSR4: case report and literature review
Joan Chern-Hui Lien, Vinay D Chandrasekaran, Tarachandra M Narumanchi, et al.
European Journal of Human Genetics : EJHG
|
November 12, 2009
Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures
Stephen R Williams, Sureni V Mullegama, Jill A Rosenfeld, et al.
Cellular and Molecular Life Sciences : CMLS
|
February 28, 2022
The Alzheimer's gene SORL1 is a regulator of endosomal traffic and recycling in human neurons
Swati Mishra, Allison Knupp, Marcell P Szabo, et al.
Biorxiv : the Preprint Server for Biology
|
January 9, 2026
Evaluating Microglial Contributions to the Neurovascular Unit in Health and Neurodegeneration Using Human <i>In Vitro</i> Models
Kira Evitts, Emily Turschak, Charles A Williams, et al.
Stem Cell Research
|
June 8, 2026
Generation of WTC11 CLYBL-CAG_GCaMP8f cell line for fast and sensitive calcium tracking
Noah Jackson Bowers, Likitha Nimmagadda, Chizuru Kinoshita, et al.
Biorxiv : the Preprint Server for Biology
|
March 27, 2026
RhoGEF12 regulates endosomal SORL1-retromer and its inhibition is therapeutic in human neuronal models of Alzheimer's disease
Yasir H Qureshi, Charles A Williams, Istvan Hajdu, et al.
American Journal of Medical Genetics. Part A
|
February 14, 2006
Angelman syndrome 2005: updated consensus for diagnostic criteria
Charles A Williams, Arthur L Beaudet, Jill Clayton-Smith, et al.
Pediatrics
|
February 5, 2008
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation
Agatino Battaglia, H Eugene Hoyme, Bruno Dallapiccola, et al.
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of 4
Search research articles
Search
Showing results (21-30 of 37) with videos related to
Sort By:
Page
of 4
Journal of Speech, Language, and Hearing Research : JSLHR
|
June 22, 2006
Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2
Lawrence D Shriberg, Kirrie J Ballard, J Bruce Tomblin, et al.
International Journal of Pediatric Endocrinology
|
July 12, 2012
Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology?
Emmanuelle S Topiol, Laurie A Minarich, Charles A Williams, et al.
Global Medical Genetics
|
July 15, 2025
Hemizygous contiguous gene deletion within Xq28 that includes BCAP31, ABCD1, SRPK3 and SSR4: case report and literature review
Joan Chern-Hui Lien, Vinay D Chandrasekaran, Tarachandra M Narumanchi, et al.
European Journal of Human Genetics : EJHG
|
November 12, 2009
Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures
Stephen R Williams, Sureni V Mullegama, Jill A Rosenfeld, et al.
Cellular and Molecular Life Sciences : CMLS
|
February 28, 2022
The Alzheimer's gene SORL1 is a regulator of endosomal traffic and recycling in human neurons
Swati Mishra, Allison Knupp, Marcell P Szabo, et al.
Biorxiv : the Preprint Server for Biology
|
January 9, 2026
Evaluating Microglial Contributions to the Neurovascular Unit in Health and Neurodegeneration Using Human <i>In Vitro</i> Models
Kira Evitts, Emily Turschak, Charles A Williams, et al.
Stem Cell Research
|
June 8, 2026
Generation of WTC11 CLYBL-CAG_GCaMP8f cell line for fast and sensitive calcium tracking
Noah Jackson Bowers, Likitha Nimmagadda, Chizuru Kinoshita, et al.
Biorxiv : the Preprint Server for Biology
|
March 27, 2026
RhoGEF12 regulates endosomal SORL1-retromer and its inhibition is therapeutic in human neuronal models of Alzheimer's disease
Yasir H Qureshi, Charles A Williams, Istvan Hajdu, et al.
American Journal of Medical Genetics. Part A
|
February 14, 2006
Angelman syndrome 2005: updated consensus for diagnostic criteria
Charles A Williams, Arthur L Beaudet, Jill Clayton-Smith, et al.
Pediatrics
|
February 5, 2008
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation
Agatino Battaglia, H Eugene Hoyme, Bruno Dallapiccola, et al.
Page
of 4