Search Results - Si, Yue

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling by Holtz, Alexander M. (Author) , VanCoillie, Rachel (Author) , Vansickle, Elizabeth A. (Author) , Carere, Deanna Alexis (Author) , Withrow, Kara (Author) , Torti, Erin (Author) , Juusola, Jane (Author) , Millan, Francisca (Author) , Person, Richard (Author) , Guillen Sacoto, Maria J. (Author) , Si, Yue (Author) , Wentzensen, Ingrid M. (Author) , Pugh, Jada (Author) , Vasileiou, Georgia (Author) , Rieger, Melissa (Author) , Reis, André (Author) , Argilli, Emanuela (Author) , Sherr, Elliott H. (Author) , Aldinger, Kimberly A. (Author) , Dobyns, William B. (Author) , Brunet, Theresa (Author) , Hoefele, Julia (Author) , Wagner, Matias (Author) , Haber, Benjamin (Author) , Kotzaeridou, Urania (Author) , Keren, Boris (Author) , Heron, Delphine (Author) , Mignot, Cyril (Author) , Heide, Solveig (Author) , Courtin, Thomas (Author) , Buratti, Julien (Author) , Murugasen, Serini (Author) , Donald, Kirsten A. (Author) , O’Heir, Emily (Author) , Moody, Shade (Author) , Kim, Katherine H. (Author) , Burton, Barbara K. (Author) , Yoon, Grace (Author) , Campo, Miguel del (Author) , Masser-Frye, Diane (Author) , Kozenko, Mariya (Author) , Parkinson, Christina (Author) , Sell, Susan L. (Author) , Gordon, Patricia L. (Author) , Prokop, Jeremy W. (Author) , Karaa, Amel (Author) , Bupp, Caleb (Author) , Raby, Benjamin A. (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): the ClinGen IEM Working Group and the phenylalanine hydroxylase gene by Zastrow, Diane B. (Author) , Baudet, Heather (Author) , Shen, Wei (Author) , Thomas, Amanda (Author) , Si, Yue (Author) , Weaver, Meredith A. (Author) , Lager, Angela M. (Author) , Liu, Jixia (Author) , Mangels, Rachel (Author) , Dwight, Selina S. (Author) , Wright, Matt W. (Author) , Dobrowolski, Steven F. (Author) , Eilbeck, Karen (Author) , Enns, Gregory M. (Author) , Feigenbaum, Annette (Author) , Lichter‐Konecki, Uta (Author) , Lyon, Elaine (Author) , Pasquali, Marzia (Author) , Watson, Michael (Author) , Blau, Nenad (Author) , Steiner, Robert D. (Author) , Craigen, William J. (Author) , Mao, Rong (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext