未登录 Pediatric fibromuscular dysplasia presenting with acute right lower extremity limb ischemia requiring endovascular treatment and amputation - a case report 儿童纤维肌性发育不良伴急性右下肢缺血需行血管内治疗及截肢术——病例报告 Louiselle, Amanda; Hoffman, Olivia; Ludwig, Kathleen; Zia, Ayesha; Scheuerle, Angela; Janjua, Halima; Rakheja, Dinesh; Dillenbeck, Jeanne; Pimpalwar, Sheena; Gill, Corey; Sanati-Mehrizy, Paymon; Hawkins, Russell B. 分享 收藏
A Population-Based Assessment of Cancer Risk in Children With VACTERL 基于人群的VACTERL患儿癌症风险评估 Tark, Ji Yun; Renwick, Alexander; Tettamanti, Giorgio; Harris, Rachel D.; Desrosiers, Tania A.; Olshan, Andrew F.; Janitz, Amanda E.; Scheurer, Michael E.; Shumate, Charles J.; Scheuerle, Angela E.; Plon, Sharon E.; Huff, Chad D.; Nordgren, Ann; Luke, Barbara; Lupo, Philip J.; Schraw, Jeremy M. 分享 收藏
Strengthening the Evidence: Similar Rates of Neural Tube Defects Among Deliveries Regardless of Maternal HIV Status and Dolutegravir Exposure in Hospital Birth Surveillance in Eswatini Gill, Michelle M.; Khumalo, Philisiwe; Chouraya, Caspian; Kunene, Mthokozisi; Dlamini, Futhi; Hoffman, Heather J.; Scheuerle, Angela E.; Nhlabatsi, Bonisile; Mngometulu, Wiseman; Dlamini-Madlopha, Ntombikayise; Mthunzi, Nompumelelo; Mofenson, Lynne 分享 收藏
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype Hiatt, Susan M.; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E. Christopher; Abidi, Fatima E.; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E.; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L.; Betti, Michael J.; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E.; Coleman, Tanner F.; Crenshaw, Molly M.; Cuisset, Laurence; Curry, Cynthia J.; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A.; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G.; Felker, Stephanie A.; Fisher, Heather; Hurst, Anna C. E.; Joset, Pascal; Kelly, Melissa A.; Kmoch, Stanislav; Leadem, Benjamin R.; Lyons, Michael J.; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K.; Medne, Livija; Meeks, Naomi J. L.; Montgomery, Sarah; Napier, Melanie P.; Natowicz, Marvin; Newberry, Kimberly M.; Niceta, Marcello; Noskova, Lenka; Nowak, Catherine B.; Noyes, Amanda G.; Osmond, Matthew; Prijoles, Eloise J.; Pugh, Jada; Pullano, Verdiana; Quelin, Chloe; Rahimi-Aliabadi, Simin; Rauch, Anita; Redon, Sylvia; Reymond, Alexandre; Schwager, Caitlin R.; Sellars, Elizabeth A.; Scheuerle, Angela E.; Shukarova-Angelovska, Elena; Skraban, Cara; Stolerman, Elliot; Sullivan, Bonnie R.; Tartaglia, Marco; Thiffault, Isabelle; Uguen, Kevin; Umana, Luis A.; Bever, Yolande van; Crabben, Saskia N. van der; Slegtenhorst, Marjon A. van; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H.; Myers, Richard M.; Cooper, Gregory M. 分享 收藏
Isodicentric(Y)(p11.2) mosaicism in newborn with 46,XX cells Morrison, Monique; Patel, Sangeeta; Saukam, Sou; Willard, Alycia; Santiago, Maria Grace; Martinez, Diana; Miller, Valerie; Jacobs, Micah; Scheuerle, Angela; Koduru, Prasad 分享 收藏
Birth defect co-occurrence patterns in the Texas Birth Defects Registry Benjamin, Renata H.; Scheuerle, Angela E.; Scott, Daryl A.; Navarro Sanchez, Maria Luisa; Langlois, Peter H.; Canfield, Mark A.; Northrup, Hope; Schaaf, Christian P.; Ray, Joseph W.; McLean, Scott D.; Chen, Han; Swartz, Michael D.; Lupo, Philip J.; Agopian, A. J. 分享 收藏
Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment Simmons, Roxanne L.; Li, Haiyan; Alten, Baris; Santos, Magda S.; Jiang, Ruiji; Paul, Brianna; Lalani, Sanam J.; Cortesi, Audrey; Parks, Kendall; Khandelwal, Nitin; Smith-Packard, Bethany; Phoong, Malay A.; Chez, Michael; Fisher, Heather; Scheuerle, Angela E.; Shinawi, Marwan; Hussain, Shaun A.; Kavalali, Ege T.; Sherr, Elliott H.; Voglmaier, Susan M. 分享 收藏
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract (vol 21, pg 2755, 2019) 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 分享 收藏
Pregnancy outcomes in the omalizumab pregnancy registry and a disease-matched comparator cohort Namazy, Jennifer A.; Blais, Lucie; Andrews, Elizabeth B.; Scheuerle, Angela E.; Cabana, Michael D.; Thorp, John M.; Umetsu, Dale T.; Veith, Joachim H.; Sun, Diana; Kaufman, Derrick G.; Covington, Deborah L.; Mukhopadhyay, Santanu; Fogel, Robert B.; Lopez-Leon, Sandra; Spain, C. Victor 分享 收藏
Health Care Supervision for Children With Williams Syndrome Morris, Colleen A.; Braddock, Stephen R.; Chen, Emily; Trotter, Tracy L.; Berry, Susan A.; Burke, Leah W.; Geleske, Timothy A.; Hamid, Rizwan; Hopkin, Robert J.; Introne, Wendy J.; Lyons, Michael J.; Scheuerle, Angela E.; Stoler, Joan M. 分享 收藏
Clinical Exome Studies Have Inconsistent Coverage Gotway, Garrett; Crossley, Eric; Kozlitina, Julia; Xing, Chao; Fan, Judy; Hornbuckle, Callie; Thies, Jenny; Michel, Donnice; Quinn, Christine; Scheuerle, Angela E.; Umana, Luis A.; Uhles, Crescenda; Park, Jason Y. 分享 收藏
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract 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 分享 收藏
Are co-occurring structural birth defects associated with risk of acute lymphoblastic leukemia among children with Down syndrome Schraw, Jeremy M.; Chambers, Tiffany M.; Woodhouse, John P.; Langlois, Peter H.; Canfield, Mark A.; Scheuerle, Angela E.; Scheurer, Michael E.; Plon, Sharon E.; Rabin, Karen R.; Lupo, Philip J. 分享 收藏
Health Supervision for Children With Neurofibromatosis Type 1 Miller, David T.; Freedenberg, Debra; Schorry, Elizabeth; Ullrich, Nicole J.; Viskochil, David; Korf, Bruce R.; Chen, Emily; Trotter, Tracy L.; Berry, Susan A.; Burke, Leah W.; Geleske, Timothy A.; Hamid, Rizwan; Hopkin, Robert J.; Introne, Wendy J.; Lyons, Michael J.; Scheuerle, Angela E.; Stoler, Joan M.; Freedenberg, Debra; Jones, Marilyn C. 分享 收藏
The Xolair Pregnancy Registry (EXPECT): Perinatal outcomes among pregnant women with asthma treated with omalizumab (Xolair) compared against those of a cohort of pregnant women with moderate-to-severe asthma Namazy, Jennifer A.; Blais, Lucie; Andrews, Elizabeth B.; Scheuerle, Angela E.; Cabana, Michael D.; Thorp, John M.; Veith, Joachim H.; Umetsu, Dale T.; Sun, Diana; Kaufman, Derrick G.; Covington, Deborah L.; Mukhopadhyay, Santanu; Fogel, Robert B.; Lopez-Leon, Sandra; Spain, Vic 分享 收藏
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy Thi Tuyet Mai Nguyen; Murakami, Yoshiko; Wigby, Kristen M.; Baratang, Nissan V.; Rousseau, Justine; St-Denis, Anik; Rosenfeld, Jill A.; Laniewski, Stephanie C.; Jones, Julie; Iglesias, Alejandro D.; Jones, Marilyn C.; Masser-Frye, Diane; Scheuerle, Angela E.; Perry, Denise L.; Taft, Ryan J.; Le Deist, Francoise; Thompson, Miles; Kinoshita, Taroh; Campeau, Philippe M. 分享 收藏
Pregnancy Outcomes After Exposure to Certolizumab Pegol Updated Results From a Pharmacovigilance Safety Database Clowse, Megan E. B.; Scheuerle, Angela E.; Chambers, Christina; Afzali, Anita; Kimball, Alexa B.; Cush, John J.; Cooney, Maureen; Shaughnessy, Laura; Vanderkelen, Mark; Foerger, Frauke 分享 收藏
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation Wooderchak-Donahue, Whitney L.; Johnson, Peter; McDonald, Jamie; Blei, Francine; Berenstein, Alejandro; Sorscher, Michelle; Mayer, Jennifer; Scheuerle, Angela E.; Lewis, Tracey; Grimmer, J. Fredrik; Richter, Gresham T.; Steeves, Marcie A.; Lin, Angela E.; Stevenson, David A.; Bayrak-Toydemir, Pinar 分享 收藏
CHARACTERISTICS AND OUTCOMES OF PROSPECTIVELY REPORTED PREGNANCIES EXPOSED TO CERTOLIZUMAB PEGOL FROM A SAFETY DATABASE Clowse, M. E. B.; Scheuerle, A. E.; Chambers, C.; Afzali, A.; Kimball, A.; Cush, J. J.; Cooney, M.; Shaughnessy, L.; Vanderkelen, M.; Forger, F. 分享 收藏
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