Хайлтын үр дүнгүүд - Chakchouk, Imen

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

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

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

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A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment -н 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.

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Reproductive outcomes from maternal loss of Nlrp2 are not improved by IVF or embryo transfer consistent with oocyte-specific defect. -н 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.

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Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma -н 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.

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A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation -н 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

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MYO3A causes human dominant deafness and interacts with protocadherin 15-CD2 isoform -н 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

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Novel missense and 3’-UTR splice site variants in LHFPL5 cause autosomal recessive non-syndromic hearing impairment -н 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.

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Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance -н 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.

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A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60 -н 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

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

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FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice -н 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

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Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability -н 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.

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Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly -н 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.

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Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss -н 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

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