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Ultrasound in Obstetrics & Gynecology, ISSN 0960-7692, 09/2014, Volume 44, Issue S1, pp. 36 - 37
Journal Article
International Journal of Morphology, ISSN 0717-9367, 03/2017, Volume 35, Issue 1, p. 34
We present the case of a left medial gastrocnemius and plantar muscle agenesis in a 58-years old male cadaveric specimen from the Anatomy Laboratory at the... 
Agenesis
Journal Article
Journal Article
Indian Journal of Psychological Medicine, ISSN 0253-7176, 05/2019, Volume 41, Issue 3, p. 284
Journal Article
Fetal and Pediatric Pathology, ISSN 1551-3815, 01/2020, Volume 39, Issue 1, pp. 45 - 50
Background: Tracheal agenesis/atresia (TA) presents with respiratory distress at birth and subsequent difficulty in endotracheal intubation. The antenatal... 
esophageal agenesis/atresia | Tracheal agenesis/atresia | tracheoesophageal fistula | Tracheal agenesis | atresia | PEDIATRICS | PATHOLOGY | esophageal agenesis
Journal Article
Neuron, ISSN 0896-6273, 12/2018, Volume 100, Issue 6, pp. 1354 - 1368.e5
Corpus callosum malformations are associated with a broad range of neurodevelopmental diseases. We report that de novo mutations in MAST1 cause... 
cerebellar hypoplasia | corpus callosum | microtubules | microdeletion | MAST1 | PROTEIN | CEREBRAL ORGANOIDS | POLYMICROGYRIA | MOUSE | AGENESIS | AXON GUIDANCE | FRAMEWORK | GENERATION | EXPRESSION | NEUROSCIENCES | GENOME | Microtubule-Associated Proteins - genetics | Embryo, Mammalian | Humans | Gene Expression Regulation, Developmental - genetics | Apoptosis - genetics | Male | Developmental Disabilities - genetics | Nervous System Malformations - diagnostic imaging | Cerebellum - abnormalities | Brain - metabolism | Developmental Disabilities - diagnostic imaging | Cerebellum - diagnostic imaging | Agenesis of Corpus Callosum - genetics | Female | Microtubule-Associated Proteins - deficiency | Nervous System Malformations - genetics | Child | Disease Models, Animal | Animals, Newborn | PAX6 Transcription Factor - metabolism | Agenesis of Corpus Callosum - diagnostic imaging | Mice, Inbred C57BL | Cells, Cultured | Malformations of Cortical Development - genetics | Mutation - genetics | Agenesis of Corpus Callosum - pathology | Malformations of Cortical Development - complications | Mice, Knockout | Agenesis of Corpus Callosum - complications | Nerve Tissue Proteins - metabolism | Animals | Nervous System Malformations - complications | Brain - pathology | Malformations of Cortical Development - diagnostic imaging | Mice | Developmental Disabilities - complications | TOR protein | Hypoplasia | Cerebellum | Phenotypes | Intellectual disabilities | Cortex | Cognitive ability | Amino acids | Genomes | Microcephaly | Neurodevelopmental disorders | Kinases | Patients | Corpus callosum | Cell adhesion & migration | 1-Phosphatidylinositol 3-kinase | Proteins | Autism | Convulsions & seizures | Microencephaly | Mutation
Journal Article
Brain, ISSN 0006-8950, 2016, Volume 139, Issue Part 3, pp. 765 - 781
Journal Article
Cerebral Cortex, ISSN 1047-3211, 01/2014, Volume 24, Issue 1, pp. 186 - 198
Journal Article
Journal Article