检索结果 - Robbins, Sarah M.

The NHGRI Short Course in Genomics: Energizing genetics and genomics education in classrooms through direct engagement between educators and scientists 由 Robbins, Sarah M., Daulton, Christina R., Hurle, Belen, Easter, Carla

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Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes 由 Robbins, Sarah M., Thimm, Matthew A., Valle, David, Jelin, Angie C.

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Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature 由 El Abiad, Jad M., Robbins, Sarah M., Cohen, Bernard, Levin, Adam S., Valle, David L., Morris, Carol D., de Macena Sobreira, Nara L.

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Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy 由 Ben-Salem, Salma, Robbins, Sarah M, Sobreira, Nara LM, Lyon, Angeline, Al-Shamsi, Aisha M, Islam, Barira K, Akawi, Nadia A, John, Anne, Thachillath, Pramathan, Hamed, Sania Al, Valle, David, Ali, Bassam R, Al-Gazali, Lihadh

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Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome 由 Telegrafi, Aida, Webb, Bryn D., Robbins, Sarah M., Speck-Martins, Carlos E., FitzPatrick, David, Fleming, Leah, Redett, Richard, Dufke, Andres, Houge, Gunnar, van Harssel, Jeske J.T., Verloes, Alain, Robles, Angela, Manoli, Irini, Engle, Elizabeth C., Jabs, Ethylin Wang, Valle, David, Carey, John, Hoover-Fong, Julie E., Sobreira, Nara L.M.

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