نتائج البحث - Chakchouk, Imen

DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting حسب Anvar, Zahra, Chakchouk, Imen, Demond, Hannah, Sharif, Momal, Kelsey, Gavin, Van den Veyver, Ignatia B.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry حسب Chakchouk, Imen, Zhang, Di, Zhang, Zhihui, Francioli, Laurent C., Santos-Cortez, Regie Lyn P., Schrauwen, Isabelle, Leal, Suzanne M.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment حسب Schrauwen, Isabelle, Chakchouk, Imen, Acharya, Anushree, Liaqat, Khurram, Irfanullah, Nickerson, Deborah A., Bamshad, Michael J., Shah, Khadim, Ahmad, Wasim, Leal, Suzanne M.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment حسب Schrauwen, Isabelle, Chakchouk, Imen, Liaqat, Khurram, Jan, Abid, Nasir, Abdul, Hussain, Shabir, Nickerson, Deborah A., Bamshad, Michael J., Ullah, Asmat, Ahmad, Wasim, Leal, Suzanne M.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Reproductive outcomes from maternal loss of Nlrp2 are not improved by IVF or embryo transfer consistent with oocyte-specific defect. حسب Arian, Sara, Rubin, Jessica, Chakchouk, Imen, Sharif, Momal, Mahadevan, Sangeetha K., Erfani, Hadi, Shelly, Katharine, Liao, Lan, Lorenzo, Isabel, Ramakrishnan, Rajesh, Van den Veyver, Ignatia B.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma حسب Schrauwen, Isabelle, Melegh, Béla I., Chakchouk, Imen, Acharya, Anushree, Nasir, Abdul, Poston, Alexis, Cornejo-Sanchez, Diana M., Szabo, Zsolt, Karosi, Tamás, Bene, Judit, Melegh, Béla, Leal, Suzanne M.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation حسب Grati, M'hamed, Chakchouk, Imen, Ma, Qi, Bensaid, Mariem, Desmidt, Alexandra, Turki, Nouha, Yan, Denise, Baanannou, Aissette, Mittal, Rahul, Driss, Nabil, Blanton, Susan, Farooq, Amjad, Lu, Zhongmin, Liu, Xue Zhong, Masmoudi, Saber

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

MYO3A causes human dominant deafness and interacts with protocadherin 15-CD2 isoform حسب Grati, M’hamed, Yan, Denise, Raval, Manmeet H., Walsh, Tom, Ma, Qi, Chakchouk, Imen, Kannan-Sundhari, Abhiraami, Mittal, Rahul, Masmoudi, Saber, Blanton, Susan H., Tekin, Mustafa, King, Mary-Claire, Yengo, Christopher M., Liu, Xue Zhong

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Novel missense and 3’-UTR splice site variants in LHFPL5 cause autosomal recessive non-syndromic hearing impairment حسب Liaqat, Khurram, Chiu, Ilene, Lee, Kwanghyuk, Chakchouk, Imen, Andrade-Elizondo, Paula B., Santos-Cortez, Regie Lyn P., Hussain, Shabir, Nawaz, Shoaib, Ansar, Muhammad, Khan, Muhammad Nasim, Basit, Sulman, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance حسب Liaqat, Khurram, Schrauwen, Isabelle, Raza, Syed Irfan, Lee, Kwanghyuk, Hussain, Shabir, Chakchouk, Imen, Nasir, Abdul, Acharya, Anushree, Abbe, Izoduwa, Umair, Muhammad, Ansar, Muhammad, Ullah, Irfan, Shah, Khadim, Bamshad, Michael J., Nickerson, Deborah A., Ahmad, Wasim, Leal, Suzanne M.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60 حسب Ben Said, Mariem, Grati, M’hamed, Ishimoto, Takahiro, Zou, Bing, Chakchouk, Imen, Ma, Qi, Yao, Qi, Hammami, Bouthaina, Yan, Denise, Mittal, Rahul, Nakamichi, Noritaka, Ghorbel, Abdelmonem, Neng, Lingling, Tekin, Mustafa, Shi, Xiao Rui, Kato, Yukio, Masmoudi, Saber, Lu, Zhongmin, Hmani, Mounira, Liu, Xuezhong

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa حسب 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.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice حسب Schrauwen, Isabelle, Giese, Arnaud PJ, 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

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability حسب Santos-Cortez, Regie Lyn P., Khan, Valeed, Sher Khan, Falak Sher, Mughal, Zaib-un-Nisa, Chakchouk, Imen, Lee, Kwanghyuk, Rasheed, Memoona, Hamza, Rifat, Acharya, Anushree, Ullah, Ehsan, Nadeem Saqib, Muhammad Arif, Abbe, Izoduwa, Ali, Ghazanfar, Jawad Hassan, Muhammad, Khan, Saadullah, Azeem, Zahid, Ullah, Irfan, Bamshad, Michael J., Nickerson, Deborah A., Schrauwen, Isabelle, Ahmad, Wasim, Ansar, Muhammad, Leal, Suzanne M.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly حسب 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, Bjørt 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.

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss حسب Richard, Elodie M., Santos-Cortez, Regie LP., 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., Schrauwen, Isabelle, Khan, Shaheen N., Morell, Robert J., Zafar, Saba, Ansar, Muhammad, Ahmed, Zubair M., Ahmad, Wasim, Riazuddin, Sheik, Friedman, Thomas B., Leal, Suzanne M., Riazuddin, Saima

احصل على النص الكامل احصل على النص الكامل احصل على النص الكامل