Hakutulokset - Sobreira, Nara

Lessons learned from the search for genes responsible for rare Mendelian disorders Tekijä Sobreira, Nara L., Valle, David

Hae kokoteksti Hae kokoteksti Hae kokoteksti

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene Tekijä Sobreira, Nara, Schiettecatte, François, Valle, David, Hamosh, Ada

Hae kokoteksti Hae kokoteksti Hae kokoteksti

LAMA2-related muscular dystrophy mimicking multiple sclerosis Tekijä Koshorek, Jacqueline, de Macena Sobreira, Nara, Saidha, Shiv

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Interstitial Deletion 5q14.3-q21 Associated With Iris Coloboma, Hearing Loss, Dental Anomaly, Moderate Intellectual Disability, and Attention Deficit and Hyperactivity Disorder Tekijä Sobreira, Nara, Walsh, Michael F., Batista, Denise, Wang, Tao

Hae kokoteksti Hae kokoteksti Hae kokoteksti

DIAMUND: Direct Comparison of Genomes to Detect Mutations Tekijä Salzberg, Steven L, Pertea, Mihaela, Fahrner, Jill A, Sobreira, Nara

Hae kokoteksti Hae kokoteksti Hae kokoteksti

New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene Tekijä Sobreira, Nara, Schiettecatte, François, Boehm, Corinne, Valle, David, Hamosh, Ada

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Role of telomere shortening in anticipation of inflammatory bowel disease Tekijä Truta, Brindusa, Wohler, Elizabeth, Sobreira, Nara, Datta, Lisa W., Brant, Steven R.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia Tekijä Li, Ruijuan, Sobreira, Nara, Witmer, P. Dane, Pratz, Keith W., Braunstein, Evan M.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Bi-allelic Pro291Leu variant in KCNQ4 leads to early onset non-syndromic hearing loss Tekijä Ramzan, Memoona, Idrees, Hafiza, Mujtaba, Ghulam, Sobreira, Nara, Witmer, P. Dane, Naz, Sadaf

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis Tekijä Sisk, Robert A., Hufnagel, Robert B., Laham, Ailee, Wohler, Elizabeth S., Sobreira, Nara, Ahmed, Zubair M.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan Tekijä Ramzan, Memoona, Bashir, Rasheeda, Salman, Midhat, Mujtaba, Ghulam, Sobreira, Nara, Witmer, P. Dane, Naz, Sadaf

Hae kokoteksti Hae kokoteksti Hae kokoteksti

PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features Tekijä Hamosh, Ada, Sobreira, Nara, Hoover-Fong, Julie, Sutton, V Reid, Boehm, Corinne, Schiettecatte, François, Valle, David

Hae kokoteksti Hae kokoteksti Hae kokoteksti

A NOVEL CASE OF GREENBERG DYSPLASIA AND GENOTYPE-PHENOTYPE CORRELATION ANALYSIS FOR LBR PATHOGENIC VARIANTS: AN INSTRUCTIVE EXAMPLE OF ONE GENE-MULTIPLE PHENOTYPES. Tekijä Giorgio, Elisa, Sirchia, Fabio, Bosco, Martino, Sobreira, Nara Lygia M., Grosso, Enrico, Brussino, Alessandro, Brusco, Alfredo

Hae kokoteksti Hae kokoteksti Hae kokoteksti

A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures Tekijä Lu, Jacqueline G., Bishop, Juliet, Cheyette, Sarah, Zhulin, Igor B., Guo, Su, Sobreira, Nara, Brenner, Steven E.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Homozygous deletion in MYL9 expands the molecular basis of megacystis–microcolon–intestinal hypoperistalsis syndrome Tekijä Moreno, Carolina Araujo, Sobreira, Nara, Pugh, Elizabeth, Zhang, Peng, Steel, Gary, Torres, Fábio Rossi, Cavalcanti, Denise Pontes

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1 Tekijä Carvalho, Daniel R., Speck-Martins, Carlos E., Brum, Jaime M., Ferreira, Carlos R., Sobreira, Nara L. M.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

An Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia Secondary to Lamin B Receptor (LBR) Gene Mutations: Further Definition of the Phenotypic Heterogeneity o... Tekijä Sobreira, Nara, Modaff, Peggy, Steel, Gary, You, Jing, Nanda, Sonia, Hoover-Fong, Julie, Valle, David, Pauli, Richard M

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Exome Sequencing Identifies a De Novo Frameshift Mutation in the Imprinted Gene ZDBF2 in a Sporadic Patient with Nasopalpebral Lipoma-Coloboma Syndrome Tekijä Chacón-Camacho, Oscar F., Sobreira, Nara, You, Jing, Piña-Aguilar, Raul E., Villegas-Ruiz, Vanessa, Zenteno, Juan C.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency Tekijä Lee-Barber, Jasmine, English, Taylor E., Britton, Jacquelyn F., Sobreira, Nara, Goldstein, Jason, Valle, David, Bjornsson, Hans Tomas

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function Tekijä Meyer, April N., Modaff, Peggy, Wang, Clark G., Wohler, Elizabeth, Sobreira, Nara L., Donoghue, Daniel J., Pauli, Richard M.

Hae kokoteksti Hae kokoteksti Hae kokoteksti