المؤلفون: Tremblay-Laganière, Camille, Maroofian, Reza, Nguyen, Thi Tuyet Mai, Karimiani, Ehsan Ghayoor^{Aff3, 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, Kristin^{Aff11, Aff12}, Ismail, Fatima Y.^{Aff12, Aff13}, Patel, Millan S., Lehman, Anna, Edmondson, Andrew C., Nagy, Amanda, Walker, Melissa A., Mercimek-Andrews, Saadet^{Aff17, Aff18}, Maki, Yuta^{Aff19, Aff20}, Sachdev, Rani^{Aff21, Aff22}, Macintosh, Rebecca, Palmer, Elizabeth E.^{Aff21, Aff22}, Mancini, Grazia M. S., Barakat, Tahsin Stefan, Steinfeld, Robert, Rüsch, Christina T., Stettner, Georg M., Wagner, Matias^{Aff25, Aff26}, Wortmann, Saskia B.^{Aff27, Aff28}, Kini, Usha, Brady, Angela F., Stals, Karen L., Ismayilova, Naila, Ellard, Sian^{Aff31, Aff33}, Bernardo, Danilo, Nugent, Kimberly, McLean, Scott D., Antonarakis, Stylianos E., Houlden, Henry, Kinoshita, Taroh^{Aff37, Aff38}, Campeau, Philippe M.^Aff1, Murakami, Yoshiko^{Aff37, Aff38}

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(10):1873-1881

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/

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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 neurology

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3330af47383d2432390544a36ec919b7
https://pub.dzne.de/record/155719

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::30738c1df97e4567efe3d233cdf4f174
http://europepmc.org/articles/PMC5836855

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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

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bc628bb2d30b9d37b03f1a57331b42cb
https://openaccess.sgul.ac.uk/id/eprint/110101/1/Stals_et_al-2018-Prenatal_Diagnosis.pdf

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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