Search Results - 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... by von Oettingen, Julia E., Tan, Wen-Hann, Dauber, Andrew

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female by 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.

Get full text Get full text Get full text

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

Get full text Get full text Get full text

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

Get full text Get full text Get full text

Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome by 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.

Get full text Get full text Get full text

Neurodevelopmental Profile of Siblings with Angelman Syndrome due to pathogenic UBE3A variants by 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

Get full text Get full text Get full text

Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III by 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

Get full text Get full text Get full text

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations by 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.

Get full text Get full text Get full text

The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome by 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.

Get full text Get full text Get full text

Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with Optic Atrophy, Global Developmental Delay, Epilepsy, Ataxia, and Choreoathetosis by 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.

Get full text Get full text Get full text

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes by 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

Get full text Get full text Get full text

Maladaptive behaviors in individuals with Angelman syndrome by 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

Get full text Get full text Get full text