未登录 分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility Hwang, Jae Yeon; Chai, Pengxin; Nawaz, Shoaib; Choi, Jungmin; Lopez-Giraldez, Francesc; Hussain, Shabir; Bilguvar, Kaya; Mane, Shrikant; Lifton, Richard P.; Ahmad, Wasim; Zhang, Kai; Chung, Jean-Ju 分享 收藏
分享 收藏
Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly Bilal, Muhammad; Khan, Hammal; Khan, Muhammad Javed; Haack, Tobias B.; Buchert, Rebecca; Liaqat, Khurram; Ullah, Kifayat; Ahmed, Sohail; Bharadwaj, Thashi; Acharya, Anushree; Peralta, Susana; Najumuddin; Ali, Hamid; Hasni, Muhammad Sharif; Schrauwen, Isabelle; Ullah, Asmat; Ahmad, Wasim; Leal, Suzanne M. 分享 收藏
分享 收藏
A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies Raza, Rubab; Chhabra, Gagan; Bilal, Muhammad; Ndiaye, Mary A.; Liaqat, Khurram; Nawaz, Shoaib; Sgro, Jean-Yves; Rayment, Ivan; Ahmad, Wasim; Ahmad, Nihal 分享 收藏
Syntaxin 4 is essential for hearing in human and zebrafish Schrauwen, Isabelle; Ghaffar, Amama; Bharadwaj, Thashi; Shah, Khadim; Rehman, Sakina; Acharya, Anushree; Liaqat, Khurram; Lin, Nicole S.; Everard, Jenna L.; Khan, Anwar; Ahmed, Zubair M.; Ahmad, Wasim; Riazuddin, Saima; Leal, Suzanne M. 分享 收藏
Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis Raza, Rubab; Ullah, Asmat; Haider, Nighat; Krishin, Jai; Shah, Muqadar; Khan, Fati Ullah; Abdullah; Hansen, Torben; Raza, Syed Irfan; Ahmad, Wasim; Basit, Sulman 分享 收藏
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice Rawlins, Lettie E.; Almousa, Hashem; Khan, Shazia; Collins, Stephan C.; Milev, Miroslav P.; Leslie, Joseph; Saint-Dic, Djenann; Khan, Valeed; Hincapie, Ana Maria; Day, Jacob O.; McGavin, Lucy; Rowley, Christine; Harlalka, Gaurav V.; Vancollie, Valerie E.; Ahmad, Wasim; Lelliott, Christopher J.; Gul, Asma; Yalcin, Binnaz; Crosby, Andrew H.; Sacher, Michael; Baple, Emma L. 分享 收藏
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment Bharadwaj, Thashi; Schrauwen, Isabelle; Rehman, Sakina; Liaqat, Khurram; Acharya, Anushree; Giese, Arnaud P. J.; Nouel-Saied, Liz M.; Nasir, Abdul; Everard, Jenna L.; Pollock, Lana M.; Zhu, Shaoyuan; Bamshad, Michael J.; Nickerson, Deborah A.; Ali, Raja Hussain; Ullah, Asmat; Wali, Abdul; Ali, Ghazanfar; Santos-Cortez, Regie Lyn P.; Ahmed, Zubair M.; McDermott Jr, Brian M.; Ansar, Muhammad; Riazuddin, Saima; Ahmad, Wasim; Leal, Suzanne M. 分享 收藏
分享 收藏
分享 收藏
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly Ullah, Irfan; Kakar, Naseebullah; Schrauwen, Isabelle; Hussain, Shabir; Chakchouk, Imen; Liaqat, Khurram; Acharya, Anushree; Wasif, Naveed; Santos-Cortez, Regie Lyn P.; Khan, Saadullah; Aziz, Abdul; Lee, Kwanghyuk; Couthouis, Julien; Horn, Denise; Kragesteen, Bjort K.; Spielmann, Malte; Thiele, Holger; Nickerson, Deborah A.; Bamshad, Michael J.; Gitler, Aaron D.; Ahmad, Jamil; Ansar, Muhammad; Borck, Guntram; Ahmad, Wasim; Leal, Suzanne M. 分享 收藏
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss Richard, Elodie M.; Santos-Cortez, Regie Lyn P.; Faridi, Rabia; Rehman, Atteeq U.; Lee, Kwanghyuk; Shahzad, Mohsin; Acharya, Anushree; Khan, Asma A.; Imtiaz, Ayesha; Chakchouk, Imen; Takla, Christina; Abbe, Izoduwa; Rafeeq, Maria; Liaqat, Khurram; Chaudhry, Taimur; Bamshad, Michael J.; Nickerson, Deborah A.; Schrauwen, Isabelle; Khan, Shaheen N.; Morell, Robert J.; Zafar, Saba; Ansar, Muhammad; Ahmed, Zubair M.; Ahmad, Wasim; Riazuddin, Sheikh; Friedman, Thomas B.; Leal, Suzanne M.; Riazuddin, Saima 分享 收藏
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice Schrauwen, Isabelle; Giese, Arnaud P. J.; Aziz, Abdul; Lafont, David Tino; Chakchouk, Imen; Santos-Cortez, Regie Lyn P.; Lee, Kwanghyuk; Acharya, Anushree; Khan, Falak Sher; Ullah, Asmat; Nickerson, Deborah A.; Bamshad, Michael J.; Ali, Ghazanfar; Riazuddin, Saima; Ansar, Muhammad; Ahmad, Wasim; Ahmed, Zubair M.; Leal, Suzanne M. 分享 收藏
Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa 确认DHX38在早发性视网膜色素变性病因中的作用 Latif, Zahid; Chakchouk, Imen; Schrauwen, Isabelle; Lee, Kwanghyuk; Santos-Cortez, Regie Lyn P.; Abbe, Izoduwa; Acharya, Anushree; Jarral, Afeefa; Ali, Imran; Ullah, Ehsan; Khan, Muhammad Nasim; Ali, Ghazanfar; Tahir, Tufail Hussain; Bamshad, Michael J.; Nickerson, Deborah A.; Ahmad, Wasim; Ansar, Muhammad; Leal, Suzanne M. 分享 收藏