检索结果 - Schindewolf, Erica
- Showing 1 - 9 results of 9
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Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome 由 Schindewolf, Erica, Khalek, Nahla, Johnson, Mark P., Gebb, Juliana, Coleman, Beverly, Crowley, Terrence Blaine, Zackai, Elaine H., McDonald-McGinn, Donna M., Moldenhauer, Julie S.
出版 2018Text -
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Molecular diagnosis of somatic overgrowth conditions: A single‐center experience 由 Lalonde, Emilie, Ebrahimzadeh, Jessica, Rafferty, Keith, Richards‐Yutz, Jennifer, Grant, Richard, Toorens, Erik, Marie Rosado, Jennifer, Schindewolf, Erica, Ganguly, Tapan, Kalish, Jennifer M., Deardorff, Matthew A., Ganguly, Arupa
出版 2019Text -
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Loss-of-Function of Endothelin Receptor Type A Results in Oro-Oto-Cardiac Syndrome 由 Pritchard, Amanda Barone, Kanai, Stanley M., Krock, Bryan, Schindewolf, Erica, Oliver-Krasinski, Jennifer, Kahlek, Nahla, Okashah, Najeah, Lambert, Nevin A., Tavares, Andre L.P., Zackai, Elaine, Clouthier, David E.
出版 2020Text -
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Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm 由 Sheppard, Sarah E., Smith, Anna, Grand, Katheryn, Pogoriler, Jennifer, Rubin, Adam I., Schindewolf, Erica, Fitzgerald, Mark P., Moldenhauer, Julie, Laje, Pablo, Peranteau, William, Bhoj, Elizabeth, McMahon, Patrick, Castelo-Soccio, Leslie
出版 2020Text -
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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis 由 Gueneau, Lucie, Fish, Richard J., Shamseldin, Hanan E., Voisin, Norine, Tran Mau-Them, Frédéric, Preiksaitiene, Egle, Monroe, Glen R., Lai, Angeline, Putoux, Audrey, Allias, Fabienne, Ambusaidi, Qamariya, Ambrozaityte, Laima, Cimbalistienė, Loreta, Delafontaine, Julien, Guex, Nicolas, Hashem, Mais, Kurdi, Wesam, Jamuar, Saumya Shekhar, Ying, Lim J., Bonnard, Carine, Pippucci, Tommaso, Pradervand, Sylvain, Roechert, Bernd, van Hasselt, Peter M., Wiederkehr, Michaël, Wright, Caroline F., Xenarios, Ioannis, van Haaften, Gijs, Shaw-Smith, Charles, Schindewolf, Erica M., Neerman-Arbez, Marguerite, Sanlaville, Damien, Lesca, Gaëtan, Guibaud, Laurent, Reversade, Bruno, Chelly, Jamel, Kučinskas, Vaidutis, Alkuraya, Fowzan S., Reymond, Alexandre
出版 2018Text -
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What’s New with 22q? An update from the 22q and You Center at the Children’s Hospital of Philadelphia 由 Campbell, Ian M., Sheppard, Sarah E., Crowley, T. Blaine, McGinn, Daniel E., Bailey, Alice, McGinn, Michael J., Unolt, Marta, Homans, Jelle F., Chen, Erin Y., Salmons, Harold I., Gaynor, J. William, Goldmuntz, Elizabeth, Jackson, Oksana A., Katz, Lorraine E., Mascarenhas, Maria R., Deeney, Vincent F. X., Castelein, Rene M., Zu, Karen B., Elden, Lisa, Kallish, Staci, Kolon, Thomas F., Hopkins, Sarah E., Chadehumbe, Madeline A., Lambert, Michele P., Forbes, Brian J., Moldenhauer, Julie S., Schindewolf, Erica M., Solot, Cynthia B., Moss, Edward M., Gur, Raquel E., Sullivan, Kathleen E., Emanuel, Beverly S., Zackai, Elaine H., McDonald-McGinn, Donna M.
出版 2018Text