Suchergebnisse - Schindewolf, Erica
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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 von Schindewolf, Erica, Khalek, Nahla, Johnson, Mark P., Gebb, Juliana, Coleman, Beverly, Crowley, Terrence Blaine, Zackai, Elaine H., McDonald-McGinn, Donna M., Moldenhauer, Julie S.
Veröffentlicht 2018Text -
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Molecular diagnosis of somatic overgrowth conditions: A single‐center experience von 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
Veröffentlicht 2019Text -
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Loss-of-Function of Endothelin Receptor Type A Results in Oro-Oto-Cardiac Syndrome von 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.
Veröffentlicht 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 von 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
Veröffentlicht 2020Text -
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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis von 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
Veröffentlicht 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 von 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.
Veröffentlicht 2018Text