检索结果 - Webb, Bryn D.

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

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

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

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

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

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

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

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

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

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

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Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy 由 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

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Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly 由 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

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Novel, Compound Heterozygous, Single Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss 由 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.

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DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients 由 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

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Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients 由 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

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DIFFERENTIATING MOEBIUS SYNDROME AND OTHER CONGENITAL FACIAL WEAKNESS DISORDERS WITH ELECTRODIAGNOSTIC STUDIES 由 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

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ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories 由 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

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Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry 由 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

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Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor 由 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.

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Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS) 由 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.

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