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American Journal of Medical Genetics. Part A
|
December 14, 2019
Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant
Heming Wei, Janardhan Krishnappa, Grace Lin, et al.
Cureus
|
June 23, 2023
Cerebral X-linked Adrenoleukodystrophy Presenting As Enlarging Cavum Vergae Cyst: A Case Report
Tien Meng Cheong, Wan Tew Seow, Ronald Ming Ren Tan, et al.
Neurology(R) Neuroimmunology & Neuroinflammation
|
December 12, 2023
Defining the Clinicoradiologic Syndrome of SARS-CoV-2 Acute Necrotizing Encephalopathy: A Systematic Review and 3 New Pediatric Cases
Vanessa W Lee, Kai Qian Kam, Ahmad R Mohamed, et al.
Journal of Paediatrics and Child Health
|
April 15, 2022
Acute encephalopathy with biphasic seizures and restricted diffusion
Khoa L Nguyen, Daniel McGurty, Emily A Innes, et al.
JAMA Network Open
|
April 16, 2024
Treatments and Outcomes Among Patients with Sydenham Chorea: A Meta-Analysis
Michael Eyre, Terrence Thomas, Emanuela Ferrarin, et al.
Clinical Dysmorphology
|
May 17, 2023
DEGS1 -related leukodystrophy: a clinical report and review of literature
Melissa Song Ting Wong, Terrence Thomas, Jiin Ying Lim, et al.
NPJ Digital Medicine
|
November 25, 2025
Information content as a health system screening tool for rare diseases
Tudor Groza, Peter N Robinson, Weng Khong Lim, et al.
Journal of Paediatrics and Child Health
|
November 29, 2024
Childhood acute flaccid myelitis, including the first confirmed cases of enterovirus D68 myelitis, in Singapore and Southeast Asia
Jillian Ann Pakiam, Karen Donceras Nadua, Cui Lin, et al.
Pediatric Neurology
|
March 10, 2015
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome may have a hypothalamus-periaqueductal gray localization
Cristelle Chow, Marielle Valerie Fortier, Lena Das, et al.
American Journal of Medical Genetics. Part A
|
July 14, 2020
Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?
Ai Ling Koh, Carine Bonnard, Jiin Ying Lim, et al.
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of 4
Search research articles
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Showing results (21-30 of 39) with videos related to
Sort By:
Page
of 4
American Journal of Medical Genetics. Part A
|
December 14, 2019
Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant
Heming Wei, Janardhan Krishnappa, Grace Lin, et al.
Cureus
|
June 23, 2023
Cerebral X-linked Adrenoleukodystrophy Presenting As Enlarging Cavum Vergae Cyst: A Case Report
Tien Meng Cheong, Wan Tew Seow, Ronald Ming Ren Tan, et al.
Neurology(R) Neuroimmunology & Neuroinflammation
|
December 12, 2023
Defining the Clinicoradiologic Syndrome of SARS-CoV-2 Acute Necrotizing Encephalopathy: A Systematic Review and 3 New Pediatric Cases
Vanessa W Lee, Kai Qian Kam, Ahmad R Mohamed, et al.
Journal of Paediatrics and Child Health
|
April 15, 2022
Acute encephalopathy with biphasic seizures and restricted diffusion
Khoa L Nguyen, Daniel McGurty, Emily A Innes, et al.
JAMA Network Open
|
April 16, 2024
Treatments and Outcomes Among Patients with Sydenham Chorea: A Meta-Analysis
Michael Eyre, Terrence Thomas, Emanuela Ferrarin, et al.
Clinical Dysmorphology
|
May 17, 2023
DEGS1 -related leukodystrophy: a clinical report and review of literature
Melissa Song Ting Wong, Terrence Thomas, Jiin Ying Lim, et al.
NPJ Digital Medicine
|
November 25, 2025
Information content as a health system screening tool for rare diseases
Tudor Groza, Peter N Robinson, Weng Khong Lim, et al.
Journal of Paediatrics and Child Health
|
November 29, 2024
Childhood acute flaccid myelitis, including the first confirmed cases of enterovirus D68 myelitis, in Singapore and Southeast Asia
Jillian Ann Pakiam, Karen Donceras Nadua, Cui Lin, et al.
Pediatric Neurology
|
March 10, 2015
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome may have a hypothalamus-periaqueductal gray localization
Cristelle Chow, Marielle Valerie Fortier, Lena Das, et al.
American Journal of Medical Genetics. Part A
|
July 14, 2020
Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?
Ai Ling Koh, Carine Bonnard, Jiin Ying Lim, et al.
Page
of 4