检索结果 - Rodriguez-Buritica, David

Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study 由 Aggarwal, Anjali, Northrup, Hope, Rodriguez-Buritica, David F., Hashmi, S. Shahrukh, Saavedra, Heather

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GENE-04. CHARACTERISTICS OF PATIENTS WITH A PRIMARY BRAIN TUMOR UNDERGOING HEREDITARY CANCER MULTI-GENE PANEL TESTING 由 Azam, Sarah, Qualmann, Krista, Hashmi, Syed, Ramdaney, Aarti, Rodriguez-Buritica, David, Dunnington, Leslie, Jackson, Michelle

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NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent 由 Langley, Elizabeth, Farach, Laura S., Koenig, Mary K., Northrup, Hope, Rodriguez‐Buritica, David F., Mowrey, Kate

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Two Cases of Fatal Hyperammonemia Syndrome due to Mycoplasma hominis and Ureaplasma urealyticum in Immunocompromised Patients Outside Lung Transplant Recipients 由 Nowbakht, Cima, Edwards, Angelina R, Rodriguez-Buritica, David F, Luce, Andrea M, Doshi, Pratik B, De Golovine, Aleksandra, Bynon, John S, Nigo, Masayuki

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Frequency, Progression, and Current Management: Report of 16 New Cases of Nonfunctional Pancreatic Neuroendocrine Tumors in Tuberous Sclerosis Complex and Comparison With Previous... 由 Mowrey, Kate, Northrup, Hope, Rougeau, Peyton, Hashmi, S. Shahrukh, Krueger, Darcy A., Ebrahimi-Fakhari, Daniel, Towbin, Alexander J., Trout, Andrew T., Capal, Jamie K., Franz, David Neal, Rodriguez-Buritica, David

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Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States 由 Hoover-Fong, Julie E., Alade, Adekemi Y., Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Liu, Chengxin, McGready, John, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Schulze, Kerry J., Serna, Maria Elena, Smid, Cory J., Bober, Michael B.

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Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs 由 Derks, Terry G. J., Rodriguez-Buritica, David F., Ahmad, Ayesha, de Boer, Foekje, Couce, María L., Grünert, Sarah C., Labrune, Philippe, López Maldonado, Nerea, Fischinger Moura de Souza, Carolina, Riba-Wolman, Rebecca, Rossi, Alessandro, Saavedra, Heather, Gupta, Rupal Naik, Valayannopoulos, Vassili, Mitchell, John

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Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children 由 Bashamboo, Anu, Eozenou, Caroline, Jorgensen, Anne, Bignon-Topalovic, Joelle, Siffroi, Jean-Pierre, Hyon, Capucine, Tar, Attila, Nagy, Péter, Sólyom, Janos, Halász, Zita, Paye-Jaouen, Annnabel, Lambert, Sophie, Rodriguez-Buritica, David, Bertalan, Rita, Martinerie, Laetitia, Rajpert-De Meyts, Ewa, Achermann, John C., McElreavey, Ken

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Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective cohort... 由 Hoover-Fong, Julie E., Schulze, Kerry J., Alade, Adekemi Y., Bober, Michael B., Gough, Ethan, Hashmi, S. Shahrukh, Hecht, Jacqueline T., Legare, Janet M., Little, Mary Ellen, Modaff, Peggy, Pauli, Richard M., Rodriguez-Buritica, David F., Serna, Maria E., Smid, Cory, Liu, Chengxin, McGready, John

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Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability 由 Wei, Aguan D., Wakenight, Paul, Zwingman, Theresa A., Bard, Angela M., Sahai, Nikhil, Willemsen, Marjolein H., Schelhaas, Helenius J., Stegmann, Alexander P. A., Verhoeven, Judith S., de Man, Stella A., Wessels, Marja W., Kleefstra, Tjitske, Shinde, Deepali N., Helbig, Katherine L., Basinger, Alice, Wagner, Victoria F., Rodriguez-Buritica, David, Bryant, Emily, Millichap, John J., Millen, Kathleen J., Dobyns, William B., Ramirez, Jan-Marino, Kalume, Franck K.

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DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract 由 Blackburn, Alexandria T.M., Bekheirnia, Nasim, Uma, Vanessa C., Corkins, Mark E., Xu, Yuxiao, Rosenfeld, Jill A., Bainbridge, Matthew N., Yang, Yaping, Liu, Pengfei, Madan-Khetarpal, Suneeta, Delgado, Mauricio R., Hudgins, Louanne, Krantz, Ian, Rodriguez-Buritica, David, Wheeler, Patricia G., Al Gazali, Lihadh, Al Shamsi, Aisha Mohamed Saeed Mohamed, Gomez-Ospina, Natalia, Chao, Hsiao-Tuan, Mirzaa, Ghayda M., Scheuerle, Angela E., Kukolich, Mary K, Scaglia, Fernando, Eng, Christine, Willsey, Helen Rankin, Braun, Michael C., Lamb, Dolores J., Miller, Rachel K., Bekheirnia, Mir Reza

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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction 由 Gabriele, Michele, Vulto-van Silfhout, Anneke T., Germain, Pierre-Luc, Vitriolo, Alessandro, Kumar, Raman, Douglas, Evelyn, Haan, Eric, Kosaki, Kenjiro, Takenouchi, Toshiki, Rauch, Anita, Steindl, Katharina, Frengen, Eirik, Misceo, Doriana, Pedurupillay, Christeen Ramane J., Stromme, Petter, Rosenfeld, Jill A., Shao, Yunru, Craigen, William J., Schaaf, Christian P., Rodriguez-Buritica, David, Farach, Laura, Friedman, Jennifer, Thulin, Perla, McLean, Scott D., Nugent, Kimberly M., Morton, Jenny, Nicholl, Jillian, Andrieux, Joris, Stray-Pedersen, Asbjørg, Chambon, Pascal, Patrier, Sophie, Lynch, Sally A., Kjaergaard, Susanne, Tørring, Pernille M., Brasch-Andersen, Charlotte, Ronan, Anne, van Haeringen, Arie, Anderson, Peter J., Powis, Zöe, Brunner, Han G., Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke H.M., van Bon, Bregje W.M., Lelieveld, Stefan, Gilissen, Christian, Nillesen, Willy M., Vissers, Lisenka E.L.M., Gecz, Jozef, Koolen, David A., Testa, Giuseppe, de Vries, Bert B.A.

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