Arama Sonuçları - Slavotinek, Anne

Clinical care models in the era of next‐generation sequencing Yazar: Slavotinek, Anne

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Molecular Insights into Development in Humans: Studies in Normal Development and Birth Defects Yazar: Slavotinek, Anne

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Eye Development Genes and Known Syndromes Yazar: Slavotinek, Anne M.

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A much needed new journal in the field of Pediatric Genetics Yazar: Slavotinek, Anne M.

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The Family of Crumbs Genes and Human Disease Yazar: Slavotinek, Anne M.

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Clinical utility gene card for: Bardet–Biedl syndrome Yazar: Slavotinek, Anne, Beales, Philip

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Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4(st72) allele in zebrafish Yazar: Krall, Max, Htun, Stephanie, Slavotinek, Anne

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Impact of the COVID‐19 pandemic on medical genetics and genomics training: Perspective from clinical trainees Yazar: Chenbhanich, Jirat, Slavotinek, Anne, Tam, Allison

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Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family Yazar: Qi, Zhongxia, Jeng, Linda Jo Bone, Slavotinek, Anne, Yu, Jingwei

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Mutation Update of Transcription Factor Genes FOXE3, HSF4, MAF and PITX3 Causing Cataracts and Other Developmental Ocular Defects Yazar: Anand, Deepti, Agrawal, Smriti A., Slavotinek, Anne, Lachke, Salil A.

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Congenital Diaphragmatic Hernia and Microtia in a Newborn with Mycophenolate Mofetil (MMF) Exposure: Phenocopy for Fryns Syndrome or Broad Spectrum of Teratogenic Effects? Yazar: Parisi, Melissa A., Zayed, Hatem, Slavotinek, Anne M., Rutledge, Joe C.

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Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results Yazar: Donohue, Katherine E., Gooch, Catherine, Katz, Alexander, Wakelee, Jessica, Slavotinek, Anne, Korf, Bruce R.

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Modeling Pathogenic Variants in the RNA Exosome Yazar: de Amorim, Julia, Slavotinek, Anne, Fasken, Milo B., Corbett, Anita H., Morton, Derrick J.

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Private Payer Coverage Policies for Whole Exome Sequencing (WES) in Pediatric Patients: Trends Over Time and Analysis of Evidence Cited Yazar: Douglas, Michael P., Parker, Stephanie L., Trosman, Julia R., Slavotinek, Anne M., Phillips, Kathryn A.

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Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes Yazar: Kumar, Ravinesh A, Everman, David B, Morgan, Chad T, Slavotinek, Anne, Schwartz, Charles E, Simpson, Elizabeth M

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Novel FGFR2 Deletion in Patient with Beare-Stevenson-like Syndrome Yazar: Slavotinek, Anne, Crawford, Howard, Golabi, Mahin, Tao, Cathy, Perry, Hazel, Oberoi, Sneha, Vargevik, Karin, Friez, Michael

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TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia Yazar: Balkin, Daniel M., Poranki, Menitha, Forester, Craig M., Dorsey, Morna J., Slavotinek, Anne, Pomerantz, Jason H.

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Pregnancy outcomes following exposure to onabotulinumtoxinA Yazar: Brin, Mitchell F., Kirby, Russell S., Slavotinek, Anne, Miller‐Messana, Mary Ann, Parker, Lori, Yushmanova, Irina, Yang, Huiying

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Perspectives of U.S. Private Payers on Insurance Coverage for Pediatric and Prenatal Exome Sequencing – Results of a study from the Program in Prenatal and Pediatric Genomic Sequen... Yazar: Trosman, Julia R., Weldon, Christine B., Slavotinek, Anne, Norton, Mary E., Douglas, Michael P., Phillips, Kathryn A.

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A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia – evaluation of DSEL as a candidate gene for the diaphragm... Yazar: Zayed, Hatem, Chao, Ryan, Moshrefi, Ali, LopezJimenez, Nelson, Delaney, Allen, Chen, Justin, Shaw, Gary M., Slavotinek, Anne M.

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