Výsledky vyhledávání - Al Kindy, Adila

A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome Autor Udayakumar, Achandira M., Al-Kindy, Adila

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Constitutional trisomy 8 mosaicism syndrome: case report and review Autor Udayakumar, Achandira M., Al-Kindy, Adila

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One in Three: Congenital Bent Bone Disease and Intermittent Hyperthermia in Three Siblings with Stuve-Wiedemann Syndrome Autor Koul, Roshan, Al-Kindy, Adila, Mani, Renjith, Sankhla, Dilip, Al-Futaisi, Amna

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De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism Autor Udayakumar, Achandira M., Al-Mamari, Watfa, Al-Sayegh, Abeer, Al-Kindy, Adila

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Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period Autor Bruwer, Zandré, Al Ubaidani, Salwa, Al Kharusi, Khalsa, Al Murshedi, Fathiya, Al-Maawali, Almundher, Al Sayegh, Abeer, Al Kindy, Adila, Al Riyami, Nihal, Al Dughaishi, Tamima, Al Salmani, Mouza, Al Hashmi, Nadia, Al Shehhi, Maryam, Al Fahdi, Badriya, Al Amri, Sumaya, Al-Thihli, Khalid

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Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity Autor Braun, Daniela A., Schueler, Markus, Halbritter, Jan, Gee, Heon Yung, Porath, Jonathan D., Lawson, Jennifer A., Airik, Rannar, Shril, Shirlee, Allen, Susan J., Stein, Deborah, Al Kindy, Adila, Beck, Bodo B., Cengiz, Nurcan, Moorani, Khemchand N., Ozaltin, Fatih, Hashmi, Seema, Sayer, John A., Bockenhauer, Detlef, Soliman, Neveen A., Otto, Edgar A., Lifton, Richard P., Hildebrandt, Friedhelm

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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes Autor Monies, Dorota, Abouelhoda, Mohamed, AlSayed, Moeenaldeen, Alhassnan, Zuhair, Alotaibi, Maha, Kayyali, Husam, Al-Owain, Mohammed, Shah, Ayaz, Rahbeeni, Zuhair, Al-Muhaizea, Mohammad A., Alzaidan, Hamad I., Cupler, Edward, Bohlega, Saeed, Faqeih, Eissa, Faden, Maha, Alyounes, Banan, Jaroudi, Dyala, Goljan, Ewa, Elbardisy, Hadeel, Akilan, Asma, Albar, Renad, Aldhalaan, Hesham, Gulab, Shamshad, Chedrawi, Aziza, Al Saud, Bandar K, Kurdi, Wesam, Makhseed, Nawal, Alqasim, Tahani, El Khashab, Heba Y., Al-Mousa, Hamoud, Alhashem, Amal, Kanaan, Imaduddin, Algoufi, Talal, Alsaleem, Khalid, Basha, Talal A., Al-Murshedi, Fathiya, Khan, Sameena, Al-Kindy, Adila, Alnemer, Maha, Al-Hajjar, Sami, Alyamani, Suad, Aldhekri, Hasan, Al-Mehaidib, Ali, Arnaout, Rand, Dabbagh, Omar, Shagrani, Mohammad, Broering, Dieter, Tulbah, Maha, Alqassmi, Amal, Almugbel, Maisoon, AlQuaiz, Mohammed, Alsaman, Abdulaziz, Al-Thihli, Khalid, Sulaiman, Raashda A., Al-Dekhail, Wajeeh, Alsaegh, Abeer, Bashiri, Fahad A., Qari, Alya, Alhomadi, Suzan, Alkuraya, Hisham, Alsebayel, Mohammed, Hamad, Muddathir H, Szonyi, Laszlo, Abaalkhail, Faisal, Al-Mayouf, Sulaiman M., Almojalli, Hamad, Alqadi, Khalid S., Elsiesy, Hussien, Shuaib, Taghreed M., Seidahmed, Mohammed Zain, Abosoudah, Ibraheem, Akleh, Hana, AlGhonaium, Abdulaziz, Alkharfy, Turki M., Al Mutairi, Fuad, Eyaid, Wafa, Alshanbary, Abdullah, Sheikh, Farrukh R., Alsohaibani, Fahad I., Alsonbul, Abdullah, Al Tala, Saeed, Balkhy, Soher, Bassiouni, Randa, Alenizi, Ahmed S., Hussein, Maged H., Hassan, Saeed, Khalil, Mohamed, Tabarki, Brahim, Alshahwan, Saad, Oshi, Amira, Sabr, Yasser, Alsaadoun, Saad, Salih, Mustafa A., Mohamed, Sarar, Sultana, Habiba, Tamim, Abdullah, El-Haj, Moayad, Alshahrani, Saif, Bubshait, Dalal K., Alfadhel, Majid, Faquih, Tariq, El-Kalioby, Mohamed, Subhani, Shazia, Shah, Zeeshan, Moghrabi, Nabil, Meyer, Brian F., Alkuraya, Fowzan S.

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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Autor van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill, Santen, Gijs W. E.

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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome Autor van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Milunsky, Jeff, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Calvo, Amparo Sanchis, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vilain, Catheline, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Clayton-Smith, Jill, Santen, Gijs W. E.

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