Resultats de la cerca - Webb, Bryn D.

Genetic Advances in Craniofacial Malformations per Webb, Bryn D., Taub, Peter J.

Obtenir text complet Obtenir text complet Obtenir text complet

Mitochondrial translation defects and human disease per Webb, Bryn D., Diaz, George A., Prasun, Pankaj

Obtenir text complet Obtenir text complet Obtenir text complet

A framework for the evaluation of patients with congenital facial weakness per Webb, Bryn D., Manoli, Irini, Engle, Elizabeth C., Jabs, Ethylin W.

Obtenir text complet Obtenir text complet Obtenir text complet

Broad spectrum of clinical presentation in EARS2 beyond typical “leukoencephalopathy with thalamus and brain stem involvement” per Prasun, Pankaj, Mintz, Cassie, Cork, Emalyn, Naidich, Thomas P., Webb, Bryn D.

Obtenir text complet Obtenir text complet Obtenir text complet

Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis per Webb, Bryn D., Hotchkiss, Hilary, Prasun, Pankaj, Gelb, Bruce D., Satlin, Lisa

Obtenir text complet Obtenir text complet Obtenir text complet

Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population per Fedick, Anastasia M, Jalas, Chaim, Swaroop, Ananya, Smouha, Eric E, Webb, Bryn D

Obtenir text complet Obtenir text complet Obtenir text complet

Evaluation of the Affymetrix CytoScan® Dx Assay for Developmental Delay per Webb, Bryn D., Scharf, Rebecca J., Spear, Emily A., Edelmann, Lisa J., Stroustrup, Annemarie

Obtenir text complet Obtenir text complet Obtenir text complet

Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes per Rucker, Janet C., Webb, Bryn D., Frempong, Tamiesha, Gaspar, Harald, Naidich, Thomas P., Jabs, Ethylin Wang

Obtenir text complet Obtenir text complet Obtenir text complet

Mirror Movements Identified in Patients with Moebius Syndrome per Webb, Bryn D., Frempong, Tamiesha, Naidich, Thomas P., Gaspar, Harald, Jabs, Ethylin Wang, Rucker, Janet C.

Obtenir text complet Obtenir text complet Obtenir text complet

Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes–Brocks Syndrome per Webb, Bryn D., Metikala, Sanjeeva, Wheeler, Patricia G., Sherpa, Mingma D., Houten, Sander M., Horb, Marko E., Schadt, Eric E.

Obtenir text complet Obtenir text complet Obtenir text complet

Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy per Edvardson, Simon, Yi, Jae Kyo, Jalas, Chaim, Xu, Ruijuan, Webb, Bryn D, Snider, Justin, Fedick, Anastasia, Kleinman, Elisheva, Treff, Nathan R, Mao, Cungui, Elpeleg, Orly

Obtenir text complet Obtenir text complet Obtenir text complet

Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly per Morrison, Jennifer, Altuwaijri, Norah K., Brønstad, Kirsten, Aksnes, Henriette, Alsaif, Hessa S., Evans, Anthony, Hashem, Mais, Wheeler, Patricia G., Webb, Bryn D., Alkuraya, Fowzan S., Arnesen, Thomas

Obtenir text complet Obtenir text complet Obtenir text complet

Novel, Compound Heterozygous, Single Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss per Webb, Bryn D., Wheeler, Patricia G., Hagen, Jacob J., Cohen, Ninette, Linderman, Michael D., Diaz, George A., Naidich, Thomas P., Rodenburg, Richard J., Houten, Sander M., Schadt, Eric E.

Obtenir text complet Obtenir text complet Obtenir text complet

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients per Urreizti, Roser, Mayer, Klaus, Evrony, Gilad D., Said, Edith, Castilla-Vallmanya, Laura, Cody, Neal A. L., Plasencia, Guillem, Gelb, Bruce D., Grinberg, Daniel, Brinkmann, Ulrich, Webb, Bryn D., Balcells, Susanna

Obtenir text complet Obtenir text complet Obtenir text complet

Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients per Urreizti, Roser, Mayer, Klaus, Evrony, Gilad D., Said, Edith, Castilla-Vallmanya, Laura, Cody, Neal A. L., Plasencia, Guillem, Gelb, Bruce D., Grinberg, Daniel, Brinkmann, Ulrich, Webb, Bryn D., Balcells, Susanna

Obtenir text complet Obtenir text complet Obtenir text complet

DIFFERENTIATING MOEBIUS SYNDROME AND OTHER CONGENITAL FACIAL WEAKNESS DISORDERS WITH ELECTRODIAGNOSTIC STUDIES per LEHKY, TANYA, JOSEPH, REVERSA, TORO, CAMILO, WU, TIANXIA, VAN RYZIN, CAROL, GROPMAN, ANDREA, FACIO, FLAVIA M., WEBB, BRYN D., JABS, ETHYLIN WANG, BARRY, BRENDA S., ENGLE, ELIZABETH C., COLLINS, FRANCIS S., MANOLI, IRINI

Obtenir text complet Obtenir text complet Obtenir text complet

ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories per Wang, Jinlian, Liao, Jun, Zhang, Jinglan, Cheng, Wei-Yi, Hakenberg, Jörg, Ma, Meng, Webb, Bryn D., Ramasamudram-chakravarthi, Rajasekar, Karger, Lisa, Mehta, Lakshmi, Kornreich, Ruth, Diaz, George A., Li, Shuyu, Edelmann, Lisa, Chen, Rong

Obtenir text complet Obtenir text complet Obtenir text complet

Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry per Sadeghi, Neda, Hutchinson, Elizabeth, Van Ryzin, Carol, FitzGibbon, Edmond J, Butman, John A, Webb, Bryn D, Facio, Flavia, Brooks, Brian P, Collins, Francis S, Jabs, Ethylin Wang, Engle, Elizabeth C, Manoli, Irini, Pierpaoli, Carlo

Obtenir text complet Obtenir text complet Obtenir text complet

Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor per Webb, Bryn D., Evans, Anthony, Naidich, Thomas P., Bird, Lynne, Parikh, Sumit, Garcia, Meilin Fernandez, Henderson, Lindsay B., Millan, Francisca, Si, Yue, Brennand, Kristen J., Hung, Peter, Rucker, Janet C., Wheeler, Patricia G., Schadt, Eric E.

Obtenir text complet Obtenir text complet Obtenir text complet

Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS) per Crawford, Gregory E., Holt, Ingeborg E., Whittle, James, Webb, Bryn D., Tai, Denise, Davis, Sean, Margulies, Elliott H., Chen, YiDong, Bernat, John A., Ginsburg, David, Zhou, Daixing, Luo, Shujun, Vasicek, Thomas J., Daly, Mark J., Wolfsberg, Tyra G., Collins, Francis S.

Obtenir text complet Obtenir text complet Obtenir text complet