日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.

由双等位基因 COL12A1 变异引起的 XII 型胶原蛋白相关疾病的临床特征

McCarty Riley M, Saade Dimah, Munot Pinki, Laverty Chamindra G, Pinz Hailey, Zou Yaqun, McAnally Meghan, Yun Pomi, Tian Cuixia, Hu Ying, Feng Lucy, Phadke Rahul, Ceulemans Sophia, Magoulas Pilar, Skalsky Andrew J, Friedman Jennifer R, Braddock Stephen R, Neuhaus Sarah B, Malicki Denise M, Bainbridge Matthew N, Nahas Shareef, Dimmock David P, Kingsmore Stephen F, Lotze Timothy E, Foley A Reghan, Muntoni Francesco, Straub Volker, Donkervoort Sandra, Bönnemann Carsten G

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

ANKRD17 杂合子功能缺失变异会导致一种综合征,其特征为智力障碍、语言发育迟缓和畸形。

Chopra, Maya; McEntagart, Meriel; Clayton-Smith, Jill; Platzer, Konrad; Shukla, Anju; Girisha, Katta M; Kaur, Anupriya; Kaur, Parneet; Pfundt, Rolph; Veenstra-Knol, Hermine; Mancini, Grazia M S; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Kortüm, Fanny; Hempel, Maja; Denecke, Jonas; Lehman, Anna; Kleefstra, Tjitske; Stuurman, Kyra E; Wilke, Martina; Thompson, Michelle L; Bebin, E Martina; Bijlsma, Emilia K; Hoffer, Mariette J V; Peeters-Scholte, Cacha; Slavotinek, Anne; Weiss, William A; Yip, Tiffany; Hodoglugil, Ugur; Whittle, Amy; diMonda, Janette; Neira, Juanita; Yang, Sandra; Kirby, Amelia; Pinz, Hailey; Lechner, Rosan; Sleutels, Frank; Helbig, Ingo; McKeown, Sarah; Helbig, Katherine; Willaert, Rebecca; Juusola, Jane; Semotok, Jennifer; Hadonou, Medard; Short, John; Yachelevich, Naomi; Lala, Sajel; Fernández-Jaen, Alberto; Pelayo, Janvier Porta; Klöckner, Chiara; Kamphausen, Susanne B; Abou Jamra, Rami; Arelin, Maria; Innes, A Micheil; Niskakoski, Anni; Amin, Sam; Williams, Maggie; Evans, Julie; Smithson, Sarah; Smedley, Damian; de Burca, Anna; Kini, Usha; Delatycki, Martin B; Gallacher, Lyndon; Yeung, Alison; Pais, Lynn; Field, Michael; Martin, Ellenore; Charles, Perrine; Courtin, Thomas; Keren, Boris; Iascone, Maria; Cereda, Anna; Poke, Gemma; Abadie, Véronique; Chalouhi, Christel; Parthasarathy, Padmini; Halliday, Benjamin J; Robertson, Stephen P; Lyonnet, Stanislas; Amiel, Jeanne; Gordon, Christopher T

Familial Pediatric Clear Cell Meningioma With Germline SMARCE1 Mutation in the United States

美国一例携带生殖系SMARCE1突变的家族性儿童透明细胞脑膜瘤

Navalkele, Pournima; Guzman, Miguel; Kirby, Amelia; Pinz, Hailey; Kemp, Joanna

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

MAPK8IP3基因的新生突变导致智力障碍并伴有不同程度的脑部异常

Platzer, Konrad; Sticht, Heinrich; Edwards, Stacey L; Allen, William; Angione, Kaitlin M; Bonati, Maria T; Brasington, Campbell; Cho, Megan T; Demmer, Laurie A; Falik-Zaccai, Tzipora; Gamble, Candace N; Hellenbroich, Yorck; Iascone, Maria; Kok, Fernando; Mahida, Sonal; Mandel, Hanna; Marquardt, Thorsten; McWalter, Kirsty; Panis, Bianca; Pepler, Alexander; Pinz, Hailey; Ramos, Luiza; Shinde, Deepali N; Smith-Hicks, Constance; Stegmann, Alexander P A; Stöbe, Petra; Stumpel, Constance T R M; Wilson, Carolyn; Lemke, Johannes R; Di Donato, Nataliya; Miller, Kenneth G; Jamra, Rami

De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies

髓鞘调节因子(MYRF)的新生变异可能是导致心脏和泌尿生殖系统畸形的新综合征的候选基因

Pinz, Hailey; Pyle, Louise C; Li, Dong; Izumi, Kosuke; Skraban, Cara; Tarpinian, Jennifer; Braddock, Stephen R; Telegrafi, Aida; Monaghan, Kristin G; Zackai, Elaine; Bhoj, Elizabeth J