檢索結果 - Stoler, Joan

Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about 由 Karaa, Amel, Stoler, Joan M.

獲取全文 獲取全文 獲取全文

Updating the neurodevelopmental profile of Alazami syndrome: illustrating the role of developmental assessment in rare genetic disorders 由 Wojcik, Monica H, Linnea, Kate, Stoler, Joan M, Rappaport, Leonard

獲取全文 獲取全文 獲取全文

Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder 由 Dauber, Andrew, Stoler, Joan, Hechter, Eliana, Safer, Jason, Hirschhorn, Joel N

獲取全文 獲取全文 獲取全文

Biomarkers of Alcohol Use in Pregnancy 由 Bearer, Cynthia F., Stoler, Joan M., Cook, Janine D., Carpenter, Siri J.

獲取全文 獲取全文

Redefining the Progeroid Form of Ehlers-Danlos Syndrome: Report of the Fourth Patient with B4GALT7 Deficiency and Review of the Literature 由 Guo, Michael H., Stoler, Joan, Lui, Julian, Nilsson, Ola, Bianchi, Diana W., Hirschhorn, Joel N., Dauber, Andrew

獲取全文 獲取全文 獲取全文

FOXE3 plays a significant role in autosomal recessive microphthalmia 由 Reis, Linda M., Tyler, Rebecca C., Schneider, Adele, Bardakjian, Tanya, Stoler, Joan M., Melancon, Serge B., Semina, Elena V.

獲取全文 獲取全文 獲取全文

Pulmonary Vasculopathy Associated with FIGF Gene Mutation 由 Bailey, Evan, Cui, Ye, Casey, Alicia, Stoler, Joan M., Ai, Xingbin, Ma, Dongdong, Handin, Robert, Sliz, Piotr, Vargas, Sara O., El-Chemaly, Souheil Y.

獲取全文 獲取全文 獲取全文

ALX4 gain-of-function mutations in non-syndromic craniosynostosis 由 Yagnik, Garima, Ghuman, Apar, Kim, Sundon, Stevens, Cristina G., Kimonis, Virginia, Stoler, Joan, Sanchez-Lara, Pedro, Bernstein, Jonathan, Naydenov, Cyril, Drissi, Hicham, Cunningham, Michael L., Kim, Jinoh, Boyadjiev, Simeon A.

獲取全文 獲取全文 獲取全文

Novel Loss-of-Function Variants in DIAPH1 Associated With Syndromic Microcephaly, Blindness, and Early Onset Seizures 由 Al-Maawali, Almundher, Barry, Brenda J., Rajab, Anna, El-Quessny, Malak, Seman, Ann, Coury, Stephanie Newton, Barkovich, A. James, Yang, Edward, Walsh, Christopher A., Mochida, Ganeshwaran H., Stoler, Joan M.

獲取全文 獲取全文 獲取全文

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield 由 Geng, Juan, Picker, Jonathan, Zheng, Zhaojing, Zhang, Xiaoqing, Wang, Jian, Hisama, Fuki, Brown, David W, Mullen, Mary P, Harris, David, Stoler, Joan, Seman, Ann, Miller, David T, Fu, Qihua, Roberts, Amy E, Shen, Yiping

獲取全文 獲取全文 獲取全文

A Functional Mutation in the Terminal Exon of Elastin in Severe, Early-Onset Chronic Obstructive Pulmonary Disease 由 Kelleher, Cassandra M., Silverman, Edwin K., Broekelmann, Thomas, Litonjua, Augusto A., Hernandez, Melvin, Sylvia, Jody S., Stoler, Joan, Reilly, John J., Chapman, Harold A., Speizer, Frank E., Weiss, Scott T., Mecham, Robert P., Raby, Benjamin A.

獲取全文 獲取全文 獲取全文

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans 由 Hills, L. Benjamin, Masri, Amira, Konno, Kotaro, Kakegawa, Wataru, Lam, Anh-Thu N., Lim-Melia, Elizabeth, Chandy, Nandini, Hill, R. Sean, Partlow, Jennifer N., Al-Saffar, Muna, Nasir, Ramzi, Stoler, Joan M., Barkovich, A. James, Watanabe, Masahiko, Yuzaki, Michisuke, Mochida, Ganeshwaran H.

獲取全文 獲取全文 獲取全文

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield 由 Gubbels, Cynthia S., VanNoy, Grace E., Madden, Jill A., Copenheaver, Deborah, Yang, Sandra, Wojcik, Monica H., Gold, Nina B., Genetti, Casie A., Stoler, Joan, Parad, Richard B., Roumiantsev, Sergei, Bodamer, Olaf, Beggs, Alan H., Juusola, Jane, Agrawal, Pankaj B., Yu, Timothy W.

獲取全文 獲取全文 獲取全文

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay 由 Yang, Hui, Douglas, Ganka, Monaghan, Kristin G., Retterer, Kyle, Cho, Megan T., Escobar, Luis F., Tucker, Megan E., Stoler, Joan, Rodan, Lance H., Stein, Diane, Marks, Warren, Enns, Gregory M., Platt, Julia, Cox, Rachel, Wheeler, Patricia G., Crain, Carrie, Calhoun, Amy, Tryon, Rebecca, Richard, Gabriele, Vitazka, Patrik, Chung, Wendy K.

獲取全文 獲取全文 獲取全文

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination 由 Nakayama, Tojo, Al-Maawali, Almundher, El-Quessny, Malak, Rajab, Anna, Khalil, Samir, Stoler, Joan M., Tan, Wen-Hann, Nasir, Ramzi, Schmitz-Abe, Klaus, Hill, R. Sean, Partlow, Jennifer N., Al-Saffar, Muna, Servattalab, Sarah, LaCoursiere, Christopher M., Tambunan, Dimira E., Coulter, Michael E., Elhosary, Princess C., Gorski, Grzegorz, Barkovich, A. James, Markianos, Kyriacos, Poduri, Annapurna, Mochida, Ganeshwaran H.

獲取全文 獲取全文 獲取全文

Yield of Whole Exome Sequencing in Undiagnosed Patients Facing Insurance Coverage Barriers to Genetic Testing 由 Reuter, Chloe M., Kohler, Jennefer N., Bonner, Devon, Zastrow, Diane, Fernandez, Liliana, Dries, Annika, Marwaha, Shruti, Davidson, Jean, Brokamp, Elly, Herzog, Matthew, Hong, Joyce, Macnamara, Ellen, Rosenfeld, Jill A., Schoch, Kelly, Spillmann, Rebecca, Loscalzo, Joseph, Krier, Joel, Stoler, Joan, Sweetser, David, Palmer, Christina G.S., Phillips, John A, Shashi, Vandana, Adams, David A., Yang, Yaping, Ashley, Euan A., Fisher, Paul G., Mulvihill, John J., Bernstein, Jonathan A., Wheeler, Matthew T.

獲取全文 獲取全文 獲取全文

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders 由 Miller, David T., Shen, Yiping, Weiss, Lauren A., Korn, Joshua, Anselm, Irina, Bridgemohan, Carolyn, Cox, Gerald F., Dickinson, Hope, Gentile, Jennifer, Harris, David J., Hegde, Vijay, Hundley, Rachel, Khwaja, Omar, Kothare, Sanjeev, Luedke, Christina, Nasir, Ramzi, Poduri, Annapurna, Prasad, Kiran, Raffalli, Peter, Reinhard, Ann, Smith, Sharon E., Sobeih, Magdi M., Soul, Janet S., Stoler, Joan, Takeoka, Masanori, Tan, Wen-Hann, Thakuria, Joseph, Wolff, Robert, Yusupov, Roman, Gusella, James F., Daly, Mark J., Wu, Bai-Lin

獲取全文 獲取全文 獲取全文

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects 由 Duncan, Anna R., Vitobello, Antonio, Collins, Stephan C., Vancollie, Valerie E., Lelliott, Christopher J., Rodan, Lance, Shi, Jiahai, Seman, Ann R., Agolini, Emanuele, Novelli, Antonio, Prontera, Paolo, Guillen Sacoto, Maria J., Santiago-Sim, Teresa, Trimouille, Aurélien, Goizet, Cyril, Nizon, Mathilde, Bruel, Ange-Line, Philippe, Christophe, Grant, Patricia E., Wojcik, Monica H., Stoler, Joan, Genetti, Casie A., van Dooren, Marieke F., Maas, Saskia M., Alders, Marielle, Faivre, Laurence, Sorlin, Arthur, Yoon, Grace, Yalcin, Binnaz, Agrawal, Pankaj B.

獲取全文 獲取全文 獲取全文

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11 由 Ravenscroft, Thomas A., Phillips, Jennifer B., Fieg, Elizabeth, Bajikar, Sameer S., Peirce, Judy, Wegner, Jeremy, Luna, Alia A., Fox, Eric J., Yan, Yi-Lin, Rosenfeld, Jill A., Zirin, Jonathan, Kanca, Oguz, Benke, Paul J., Cameron, Eric S., Strehlow, Vincent, Platzer, Konrad, Jamra, Rami Abou, Klöckner, Chiara, Osmond, Matthew, Licata, Thomas, Rojas, Samantha, Dyment, David, Chong, Josephine S.C., Lincoln, Sharyn, Stoler, Joan M., Postlethwait, John H., Wangler, Michael F., Yamamoto, Shinya, Krier, Joel, Westerfield, Monte, Bellen, Hugo J.

獲取全文 獲取全文 獲取全文

Deletions of NRXN1 (Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders 由 Ching, Michael SL, Shen, Yiping, Tan, Wen-Hann, Jeste, Shafali S, Morrow, Eric M, Chen, Xiaoli, Mukaddes, Nahit M, Yoo, Seung-Yun, Hanson, Ellen, Hundley, Rachel, Austin, Christina, Becker, Ronald E, Berry, Gerard T, Driscoll, Katherine, Engle, Elizabeth C, Friedman, Sandra, Gusella, James F, Hisama, Fuki M, Irons, Mira B, Lafiosca, Tina, LeClair, Elaine, Miller, David T, Neessen, Michael, Picker, Jonathan D, Rappaport, Leonard, Rooney, Cynthia M, Sarco, Dean P, Stoler, Joan M, Walsh, Christopher A, Wolff, Robert R, Zhang, Ting, Nasir, Ramzi H, Wu, Bai-Lin

獲取全文 獲取全文 獲取全文