檢索結果 - Tan, Wen‐Hann

Skeletal Dysplasia, Global Developmental Delay, and Multiple Congenital Anomalies in a 5 year-old boy– Report of the Second Family with B3GAT3 mutation and Expansion of the Phenoty... 由 von Oettingen, Julia E., Tan, Wen-Hann, Dauber, Andrew

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Characterization of a novel HESX1 mutation in a pediatric case of septo‐optic dysplasia 由 Pozzi, Sara, Tan, Wen‐Hann, Martinez‐Barbera, JuanPedro

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Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History Study 由 Khan, Nasreen, Cabo, Raquel, Tan, Wen‐Hann, Tayag, Regina, Bird, Lynne M.

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An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study 由 Khan, Nasreen, Cabo, Raquel, Tan, Wen-Hann, Tayag, Regina, Bird, Lynne M.

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Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization 由 Gold, Nina B., Campbell, Ian M., Sheppard, Sarah E., Tan, Wen-Hann

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Electrophysiological Abnormalities in Angelman Syndrome Correlate With Symptom Severity 由 Hipp, Joerg F., Frohlich, Joel, Keute, Marius, Tan, Wen-Hann, Bird, Lynne M.

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The Unrecognized Mortality Burden of Genetic Disorders in Infancy 由 Wojcik, Monica H., Stadelmaier, Rachel, Heinke, Dominique, Holm, Ingrid A., Tan, Wen-Hann, Agrawal, Pankaj B.

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Clinical characterization of epilepsy in children with Angelman syndrome 由 Cassater, Daiana, Bustamante, Mariana, Sach-Peltason, Lisa, Rotenberg, Alexander, Nespeca, Mark, Tan, Wen-Hann, Bird, Lynne M., Hipp, Joerg F.

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Two Angelman Families with Unusually Advanced Neurodevelopment Carry a Start Codon Variant in the Most Highly Expressed UBE3A Isoform 由 Sadhwani, Anjali, Sanjana, Neville E., Willen, Jennifer M., Calculator, Stephen N., Black, Emily D., Bean, Lora J.H., Li, Hong, Tan, Wen-Hann

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Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female 由 Rajabi, Farrah, Rodan, Lance H., Jonas, Maureen M., Soul, Janet S., Ullrich, Nicole J., Wessel, Ann, Waisbren, Susan E., Tan, Wen-Hann, Berry, Gerard T.

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Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment 由 Keute, Marius, Miller, Meghan T., Krishnan, Michelle L., Sadhwani, Anjali, Chamberlain, Stormy, Thibert, Ronald L., Tan, Wen-Hann, Bird, Lynne M., Hipp, Joerg F.

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The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management 由 Tan, Wen‐Hann, Baris, Hagit N, Burrows, Patricia E, Robson, Caroline D, Alomari, Ahmad I, Mulliken, John B, Fishman, Steven J, Irons, Mira B

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Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome 由 Wojcik, Monica H., Thiele, Katri, Grant, Carly F., Chao, Katherine, Goodrich, Julia, O’Donnell-Luria, Anne, Lacro, Ronald V., Tan, Wen-Hann, Agrawal, Pankaj B.

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Neurodevelopmental Profile of Siblings with Angelman Syndrome due to pathogenic UBE3A variants 由 Sadhwani, Anjali, Willen, Jennifer M., Miller, Hillary, Barbieri-Welge, Rene, Horowitz, Lucia T., Noll, Lisa M., Peters, Sarika, Hundley, Rachel, Bird, Lynne M., Tan, Wen-Hann

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Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III 由 Sadhwani, Anjali, Wheeler, Anne, Gwaltney, Angela, Peters, Sarika U., Barbieri-Welge, Rene L., Horowitz, Lucia T., Noll, Lisa M., Hundley, Rachel J., Bird, Lynne M., Tan, Wen-Hann

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Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations 由 Brownstein, Catherine A., Beggs, Alan H., Rodan, Lance, Shi, Jiahai, Towne, Meghan C., Pelletier, Renee, Cao, Siqi, Rosenberg, Paul A., Urion, David K., Picker, Jonathan, Tan, Wen-Hann, Agrawal, Pankaj B.

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The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome 由 Bird, Lynne M., Ochoa-Lubinoff, Cesar, Tan, Wen-Hann, Heimer, Gali, Melmed, Raun D., Rakhit, Amit, Visootsak, Jeannie, During, Matthew J., Holcroft, Christina, Burdine, Rebecca D., Kolevzon, Alexander, Thibert, Ronald L.

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Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with Optic Atrophy, Global Developmental Delay, Epilepsy, Ataxia, and Choreoathetosis 由 D’Gama, Alissa M., England, Eleina, Madden, Jill A., Shi, Jiahai, Chao, Katherine R., Wojcik, Monica H., Torres, Alcy R., Tan, Wen-Hann, Berry, Gerard T., Prabhu, Sanjay P., Agrawal, Pankaj B.

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DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes 由 Awamleh, Zain, Chater-Diehl, Eric, Choufani, Sanaa, Wei, Elizabeth, Kianmahd, Rebecca R., Yu, Anna, Chad, Lauren, Costain, Gregory, Tan, Wen-Hann, Scherer, Stephen W., Arboleda, Valerie A., Russell, Bianca E., Weksberg, Rosanna

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Maladaptive behaviors in individuals with Angelman syndrome 由 Sadhwani, Anjali, Willen, Jennifer M., LaVallee, Nicole, Stepanians, Miganush, Miller, Hillary, Peters, Sarika U., Barbieri-Welge, Rene L., Horowitz, Lucia T., Noll, Lisa M., Hundley, Rachel J., Bird, Lynne M., Tan, Wen-Hann

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