檢索結果 - Mirzaa, Ghayda

Brain Abnormalities in PIK3CA-Related Overgrowth Spectrum: Physician, Patient, and Caregiver Experiences 由 Dexheimer, Joy, Mirzaa, Ghayda M.

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From microcephaly to megalencephaly: determinants of brain size 由 Pirozzi, Filomena, Nelson, Branden, Mirzaa, Ghayda

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SUN-049 Growth Hormone Deficiency Associated with a Rare Overgrowth Syndrome 由 Davis, Shanlee, Michels, Savannah, Mirzaa, Ghayda

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Pulmonary Vein Stenosis Associated with Germline PIK3CA Mutation 由 Yung, Delphine, Freeman, Kaitlyn, Mirzaa, Ghayda

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A Neurodegenerative Mitochondrial Disease Phenotype Due to Biallelic Loss-of-function Variants in PNPLA8 Encoding Calcium-independent Phospholipase A2γ 由 Shukla, Anju, Saneto, Russell P, Hebbar, Malavika, Mirzaa, Ghayda, Girisha, Katta M

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PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature 由 Park, Kaylee, Seltzer, Laurie E., Tuttle, Emily, Mirzaa, Ghayda M., Paciorkowski, Alex R.

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The Developmental Brain Disorders Database (DBDB): A Curated Neurogenetics Knowledge Base With Clinical and Research Applications 由 Mirzaa, Ghayda M., Millen, Kathleen J., Barkovich, A. James, Dobyns, William B., Paciorkowski, Alex R.

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Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development 由 Michels, Savannah, Foss, Kimberly, Park, Kaylee, Golden-Grant, Katie, Saneto, Russell, Lopez, Jonathan, Mirzaa, Ghayda M

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Hypoxia: A teratogen underlying a range of congenital disruptions, dysplasias, and malformations 由 Adam, Aaron P., Payton, Kurlen S. E., Sanchez-Lara, Pedro A., Adam, Margaret P., Mirzaa, Ghayda M.

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The Microcephaly-Capillary Malformation Syndrome 由 Mirzaa, Ghayda M., Paciorkowski, Alex R., Smyser, Christopher D., Willing, Marcia C., Lind, Anne C., Dobyns, William B.

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Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus 由 Ruggeri, Gaia, Timms, Andrew E., Cheng, Chi, Weiss, Avery, Kollros, Peter, Chapman, Teresa, Tully, Hannah, Mirzaa, Ghayda M.

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The utility of cerebrospinal fluid–derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report 由 Chen, Wei-Liang, Pao, Emily, Owens, James, Glass, Ian, Pritchard, Colin, Shirts, Brain H., Lockwood, Christina, Mirzaa, Ghayda M.

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Institutional Protocol to Manage Consanguinity Detected by Genetic Testing in Pregnancy in a Minor 由 Chen, Laura P., Beck, Anita E., Tsuchiya, Karen D., Chow, Penny M., Mirzaa, Ghayda M., Wiester, Rebecca T., Feldman, Kenneth W.

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Expanding the Differential Diagnosis of Fetal Hydrops: An Unusual Prenatal Presentation of Megalencephaly-Capillary Malformation Syndrome 由 Swarr, Daniel T., Khalek, Nahla, Treat, James, Horton, Margaret A., Mirzaa, Ghayda M., Riviere, Jean-Baptiste, Dobyns, William B, Zackai, Elaine H.

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Lissencephaly: expanded imaging and clinical classification 由 Di Donato, Nataliya, Chiari, Sara, Mirzaa, Ghayda M., Aldinger, Kimberly, Parrini, Elena, Olds, Carissa, Barkovich, A. James, Guerrini, Renzo, Dobyns, William B.

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Expanding Clinical Phenotype in CACNA1C Related Disorders: From Neonatal Onset Severe Epileptic Encephalopathy to Late-onset Epilepsy 由 Bozarth, Xiuhua, Dines, Jennifer N., Cong, Qian, Mirzaa, Ghayda M., Foss, Kimberly, Merritt, J. Lawrence, Thies, Jenny, Mefford, Heather C., Novotny, Edward

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PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia 由 Liu, Wenying Angela, Chen, She, Li, Zhizhong, Lee, Choong Heon, Mirzaa, Ghayda, Dobyns, William B., Ross, M. Elizabeth, Zhang, Jiangyang, Shi, Song-Hai

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Mutations in CENPE define a novel kinetochore-centromeric mechanism for Microcephalic Primordial Dwarfism 由 Mirzaa, Ghayda M., Vitre, Benjamin, Carpenter, Gillian, Abramowicz, Iga, Gleeson, Joseph G., Paciorkowski, Alex R., Cleveland, Don W., Dobyns, William B., O’Driscoll, Mark

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Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations 由 Zenner, Kaitlyn, Jensen, Dana M., Cook, Tori T., Dmyterko, Victoria, Bly, Randall A., Ganti, Sheila, Mirzaa, Ghayda M., Dobyns, William B., Perkins, Jonathan A., Bennett, James T.

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Cutaneous vascular anomalies associated with mosaic variant in AKT3; Genetic analysis continues to refine diagnosis, nomenclature, and classification of vascular anomalies 由 Davies, Olivia M.T., Garzon, Maria C., Frieden, Ilona J., Cottrell, Catherine E., Gripp, Karen W., Saneto, Russell P., Shwayder, Tor, Mirzaa, Ghayda M., Drolet, Beth A.

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