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1دورية أكاديمية
المؤلفون: Tremblay-Laganière, Camille, Maroofian, Reza, Nguyen, Thi Tuyet Mai, Karimiani, Ehsan GhayoorAff3, Aff4, Kirmani, Salman, Akbar, Fizza, Ibrahim, Shahnaz, Afroze, Bushra, Doosti, Mohammad, Ashrafzadeh, Farah, Babaei, Meisam, Efthymiou, Stephanie, Christoforou, Marilena, Sultan, Tipu, Ladda, Roger L., McLaughlin, Heather M., Truty, Rebecca, Mahida, Sonal, Cohen, Julie S.Aff11, Aff12, Baranano, KristinAff11, Aff12, Ismail, Fatima Y.Aff12, Aff13, Patel, Millan S., Lehman, Anna, Edmondson, Andrew C., Nagy, Amanda, Walker, Melissa A., Mercimek-Andrews, SaadetAff17, Aff18, Maki, YutaAff19, Aff20, Sachdev, RaniAff21, Aff22, Macintosh, Rebecca, Palmer, Elizabeth E.Aff21, Aff22, Mancini, Grazia M. S., Barakat, Tahsin Stefan, Steinfeld, Robert, Rüsch, Christina T., Stettner, Georg M., Wagner, MatiasAff25, Aff26, Wortmann, Saskia B.Aff27, Aff28, Kini, Usha, Brady, Angela F., Stals, Karen L., Ismayilova, Naila, Ellard, SianAff31, Aff33, Bernardo, Danilo, Nugent, Kimberly, McLean, Scott D., Antonarakis, Stylianos E., Houlden, Henry, Kinoshita, TarohAff37, Aff38, Campeau, Philippe M.Aff1, Murakami, YoshikoAff37, Aff38
المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(10):1873-1881
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المؤلفون: Ismail, Vardha, Zachariassen, Linda, Godwin, Annie, Sahakian, Mane, Ellard, Sian, Stals, Karen L, Tatton Brown, Kate, Foulds, Nicola, Wheway, Gabrielle, Parker, Matthew O., Lyngby, Signe M, Pedersen, Miriam G, Desir, Julie, Bayat, Allan, Lusgaard, Maria, Guille, Matthew, Kristensen, Anders S, Baralle, Diana
وصف الملف: text
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______348::2973fef41d9de0746139aa1c94f89b60
https://eprints.soton.ac.uk/456994/ -
3دورية أكاديمية
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4دورية أكاديمية
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المؤلفون: Schänzer, Anne, Achleitner, Melanie T., Trümbach, Dietrich, Hubert, Laurence, Munnich, Arnold, Ahlemeyer, Barbara, AlAbdulrahim, Maha M., Greif, Philipp A., Vosberg, Sebastian, Hummer, Blake, Feichtinger, René G., Mayr, Johannes A., Wortmann, Saskia B., Aichner, Heidi, Rudnik-Schöneborn, Sabine, Ruiz, Anna, Gabau, Elisabeth, Sánchez, Jacobo Pérez, Ellard, Sian, Homfray, Tessa, Stals, Karen L., Wurst, Wolfgang, Neubauer, Bernd A., Acker, Till, Bohlander, Stefan K., Asensio, Cédric, Besmond, Claude, Alkuraya, Fowzan S., AlSayed, Moenaldeen D., Hahn, Andreas, Weber, Axel, Justus Liebig University Giessen
المصدر: Annals of neurology 90(1), 143-158 (2021). doi:10.1002/ana.26127
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Ann. Neurol. 90, 143-158 (2021)
Annals of neurologyمصطلحات موضوعية: 0301 basic medicine, Male, Pituitary gland, Pathology, medicine.medical_specialty, Central nervous system, genetics [Epilepsy], Hypopituitarism, Peptide hormone, Article, pathology [Epilepsy], 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, Atrophy, Exome Sequencing, Medicine, Humans, ddc:610, genetics [Hypopituitarism], Exome sequencing, Alleles, Cerebral atrophy, Brain Diseases, business.industry, genetics [Brain Diseases], pathology [Brain Diseases], Infant, medicine.disease, pathology [Pituitary Gland], ddc, 030104 developmental biology, medicine.anatomical_structure, Neurology, Pituitary Gland, Child, Preschool, Female, Neurology (clinical), pathology [Hypopituitarism], business, General Economics, Econometrics and Finance, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Stals, Karen L., Wakeling, Matthew, Baptista, Júlia, Caswell, Richard, Parrish, Andrew, Rankin, Julia, Tysoe, Carolyn, Jones, Garan, Gunning, Adam C., Lango Allen, Hana, Bradley, Lisa, Brady, Angela F., Carley, Helena, Carmichael, Jenny, Castle, Bruce, Cilliers, Deirdre, Cox, Helen, Deshpande, Charu, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Fry, Andrew E., Fryer, Alan, Holder, Muriel, Homfray, Tessa, Kivuva, Emma, McKay, Victoria, Newbury‐Ecob, Ruth, Parker, Michael, Savarirayan, Ravi, Searle, Claire, Shannon, Nora, Shears, Deborah, Smithson, Sarah, Thomas, Ellen, Turnpenny, Peter D., Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Baple, Emma L., Ellard, Sian
المصدر: Prenatal Diagnosis
مصطلحات موضوعية: Male, Parents, Special Topic Issue on Advances in the Diagnosis of Single Gene Disorders, Pregnancy, Prenatal Diagnosis, Exome Sequencing, Genetic Diseases, Inborn, Humans, Female, Genes, Recessive, Congenital Abnormalities
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7دورية أكاديمية
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8
المؤلفون: Stals, Karen L, Wakeling, Matthew, Baptista, Júlia, Caswell, Richard, Parrish, Andrew, Rankin, Julia, Tysoe, Carolyn, Jones, Garan, Gunning, Adam C, Lango Allen, Hana, Bradley, Lisa, Brady, Angela F, Carley, Helena, Carmichael, Jenny, Castle, Bruce, Cilliers, Deirdre, Cox, Helen, Deshpande, Charu, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Fry, Andrew E, Fryer, Alan, Holder, Muriel, Homfray, Tessa, Kivuva, Emma, McKay, Victoria, Newbury-Ecob, Ruth, Parker, Michael, Savarirayan, Ravi, Searle, Claire, Shannon, Nora, Shears, Deborah, Smithson, Sarah, Thomas, Ellen, Turnpenny, Peter D, Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Baple, Emma L, Ellard, Sian
المساهمون: Lango Allen, Hana [0000-0002-7803-8688], Apollo - University of Cambridge Repository
مصطلحات موضوعية: Male, Parents, Pregnancy, Prenatal Diagnosis, Genetic Diseases, Inborn, Humans, Female, Genes, Recessive, R1, Whole Exome Sequencing, Congenital Abnormalities
وصف الملف: application/pdf
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9دورية
المؤلفون: Tremblay-Laganière, Camille, Maroofian, Reza, Nguyen, Thi Tuyet Mai, Karimiani, Ehsan Ghayoor, Kirmani, Salman, Akbar, Fizza, Ibrahim, Shahnaz, Afroze, Bushra, Doosti, Mohammad, Ashrafzadeh, Farah, Babaei, Meisam, Efthymiou, Stephanie, Christoforou, Marilena, Sultan, Tipu, Ladda, Roger L., McLaughlin, Heather M., Truty, Rebecca, Mahida, Sonal, Cohen, Julie S., Baranano, Kristin, Ismail, Fatima Y., Patel, Millan S., Lehman, Anna, Edmondson, Andrew C., Nagy, Amanda, Walker, Melissa A., Mercimek-Andrews, Saadet, Maki, Yuta, Sachdev, Rani, Macintosh, Rebecca, Palmer, Elizabeth E., Mancini, Grazia M.S., Barakat, Tahsin Stefan, Steinfeld, Robert, Rüsch, Christina T., Stettner, Georg M., Wagner, Matias, Wortmann, Saskia B., Kini, Usha, Brady, Angela F., Stals, Karen L., Ismayilova, Naila, Ellard, Sian, Bernardo, Danilo, Nugent, Kimberly, McLean, Scott D., Antonarakis, Stylianos E., Houlden, Henry, Kinoshita, Taroh, Campeau, Philippe M., Murakami, Yoshiko
المصدر: Genetics in Medicine; October 2021, Vol. 23 Issue: 10 p1873-1881, 9p
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10دورية أكاديمية
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