المؤلفون: Coelho da Silva, Emile Moura, Ivaniuk, Alina, Huth, Emily, Leu, Costin, Mancera, Oscar, Kolawole, Omolara, Wright, Matthew, Butler, Ian, Filipek, Pauline, Lankford, Jeremy, Watkins, Michael, Knight, Elia Pestana, Lhatoo, Samden, Von Allmen, Gretchen, Lal, Dennis

المصدر: In Genetics in Medicine Open 2024 2 Supplement 1

المؤلفون: Gage, Nicole M., Juranek, Jenifer, Filipek, Pauline A., Osann, Kathryn, Flodman, Pamela, Isenberg, A. Lisette, Spence, M. Anne

المصدر: Journal of Neurodevelopmental Disorders: Advancing Interdisciplinary Research. 1(3)

مصطلحات موضوعية: Biomedicine, Pediatrics, Human Genetics, Psychiatry, Neuropsychology, Neurobiology, Neurosciences, Auditory cortex, Developmental disorder, Heschl’s gyrus, Language cortex, Posterior superior temporal gyrus

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/08x4283x

المؤلفون: Filipek, Pauline A, Juranek, Jenifer, Smith, Moyra, Mays, Lee Z, Ramos, Erica R, Bocian, Maureen, Masser‐Frye, Diane, Laulhere, Tracy M, Modahl, Charlotte, Spence, M Anne, Gargus, J Jay

المصدر: Annals of Neurology. 53(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Autism, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Mental Health, Pediatric, Autistic Disorder, Child, Preschool, Chromosomes, Human, Pair 15, DNA-Binding Proteins, Female, Fibroblasts, Gene Duplication, Humans, Male, Mitochondria, Muscle, Muscle, Skeletal, NADH Dehydrogenase, Nuclear Proteins, Skin, alanine, carboxylic acid, carnitine, creatine kinase, fumaric acid, glutaric acid, microsatellite DNA, pyruvic acid, ubiquinol cytochrome c reductase, amino acid blood level, anion gap, article, autism, case report, cell proliferation, chemical analysis, chromosome 15q, chromosome duplication, chromosome inversion, clinical feature, cytogenetics, diet supplementation, disease association, disease course, disorders of mitochondrial functions, electroencephalogram, enzyme assay, female, fluorescence in situ hybridization, genetic analysis, histopathology, human, human tissue, hyperammonemia, karyotyping, lactic acidosis, lethargy, male, marker chromosome, motor retardation, muscle biopsy, muscle hypotonia, muscle mitochondrion, nuclear magnetic resonance imaging, otitis media, parsimony analysis, perinatal period, phenotype, preschool child, priority journal, signal transduction, skin fibroblast, treatment outcome, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4xn3f8kt

المؤلفون: Smith, Moyra, Filipek, Pauline A, Wu, Charles, Bocian, Maureen, Hakim, Simin, Modahl, Charlotte, Spence, M Anne

المصدر: American Journal of Medical Genetics. 96(6)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Autism, Biotechnology, Pediatric, Mental Health, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Adult, Autistic Disorder, Child, Chromosome Deletion, Chromosomes, Human, Pair 15, Genetic Predisposition to Disease, Humans, In Situ Hybridization, Fluorescence, Microsatellite Repeats, autism, 15q22-q23, 15q11-q13, PTPN9, SLP-1[hUNC24], protein tyrosine phosphatase, article, case report, chromosome 15q, chromosome deletion, chromosome duplication, deletion mutant, developmental disorder, DNA sequence, face dysmorphia, female, fluorescence in situ hybridization, gene expression, human, hybridization, preschool child, priority journal, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/33c4t4hv

المؤلفون: Dickerson, Aisha S., Pearson, Deborah A., Loveland, Katherine A., Rahbar, Mohammad H., Filipek, Pauline A.

المصدر: In Research in Autism Spectrum Disorders September 2014 8(9):997-1007

المؤلفون: Goldman, Sylvie, O'Brien, Liam M., Filipek, Pauline A.

المصدر: Research in Autism Spectrum Disorders. Jan 2013 7(1):82-92.

Peer Reviewed: Y

Page Count: 11

Descriptors: Brain, Autism, Pervasive Developmental Disorders, Children, Brain Hemisphere Functions, Behavior Problems, Play

المؤلفون: Goldman, Sylvie, O’Brien, Liam M., Filipek, Pauline A., Rapin, Isabelle, Herbert, Martha R.

المصدر: In Research in Autism Spectrum Disorders January-March 2013 7(1):82-92

المؤلفون: Goldberg, Wendy A., Jarvis, Kelly L., Osann, Kathryn, Laulhere, Tracy M., Straub, Carol, Thomas, Erin, Filipek, Pauline, Spence, M. Anne

المصدر: Journal of Autism and Developmental Disorders. Oct 2005 35(5):657-664.

Peer Reviewed: Y

Page Count: 8

Descriptors: Siblings, Young Children, Pervasive Developmental Disorders, Child Development, Genetics, Family Characteristics, Interaction, Interpersonal Communication, Autism, Interpersonal Competence

المؤلفون: Filipek, Pauline A., Juranek, Jenifer, Nguyen, Minh T.

المصدر: Journal of Autism and Developmental Disorders. Dec 2004 34(6):615-623.

Peer Reviewed: Y

Page Count: 9

Descriptors: Patients, Autism, Charts, Energy, Cytology, Molecular Biology, Children, Etiology

المؤلفون: Filipek, Pauline A., Accardo, Pasquale J., Baranek, Grace T.

المصدر: Journal of Autism and Developmental Disorders. Dec 1999 29(6):439-484.

Peer Reviewed: Y

Page Count: 46

Descriptors: Autism, Clinical Diagnosis, Disability Identification, Early Identification, Evaluation Methods, Guidelines, Neurology, Screening Tests, Standards, Symptoms (Individual Disorders)

Journal Code: CIJAUG2000