المؤلفون: Nancy Keller, Julian Midgley, Ehtesham Khalid, Harry Lesmana, Georgie Mathew, Christine Mincham, Norbert Teig, Zubair Khan, Indu Khosla, Sam Mehr, Tulay Guran, Kathrin Buder, Hong Xu, Khalid Alhasan, Gonul Buyukyilmaz, Nicole Weaver, Julie D. Saba

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-17 (2024)

مصطلحات موضوعية: SPLIS, SGPL1, Inborn error of metabolism, Nephrotic syndrome, Adrenal insufficiency, Kidney transplantation, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/001681b6efb54f18aee01a6b8c1590c9

المؤلفون: Nicole Weaver, Erin Miller, Cara Barnett, Nicole Brown, Ashley Neal, Alissa Meek, Amy Shikany

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101375- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424005211; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/c471b107423e47f5868cbb0f97e86ec7

المؤلفون: Corrine Capannari, Kelly Smallwood, Ronald Waclaw, Nicole Weaver

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100166- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423001668; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/857ce08f031a444bb4986eb56845aaa8

المؤلفون: Nicole Weaver, Amy Shikany, Emile Vieta, Bianca Russell, Bruce Lerman, Alanna Strong, Dong Li

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100378- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423003783; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/06718b25e8e8493bbf38f19ed8018de3

المؤلفون: van Bon, Bregje, Brooks, Alice, Guan, Qiaoning, Klee, Eric, Marcelis, Carlo, Rosado, Joel, Schimmenti, Lisa, Shikany, Amy, Terhal, Paulien, Nicole Weaver, Kathryn, Wessels, Marja, van Wieringen, Hester, Hurst, Anna, Gooch, Catherine, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Tartaglia, Marco, Niceta, Marcello, Elgersma, Ype, Demirdas, Serwet, van Woerden, Geeske, Senden, Richelle, de Konink, Charlotte, Trezza, Rossella, Baban, Anwar, Bassetti, Jennifer, van Bever, Yolande, Bird, Lynne

المصدر: Human Mutation: Variation, Informatics and Disease. 43(10)

مصطلحات موضوعية: MAP3K7, Noonan syndrome, cardiospondylocarpofacial syndrome, frontometaphyseal dysplasia type 2, Abnormalities, Multiple, Genotype, Hearing Loss, Bilateral, Humans, Mitral Valve Insufficiency, Mutation, Noonan Syndrome, Osteosclerosis, Phenotype

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2rc8d5hc

المؤلفون: Moriah Edwards, Xue Zhang, Alexander R. Opotowsky, Nicole Brown, Amy R. Shikany, Kathryn Nicole Weaver

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: adult congenital heart disease, extracardiac comorbidity, genetic testing, neurodevelopmental comorbidity, cardiology, Genetics, QH426-470

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1412806/full; https://doaj.org/toc/1664-8021; https://doaj.org/article/543d3640e48348479be07cf54a732543

الاتاحة: https://doi.org/10.3389/fgene.2024.1412806
https://doaj.org/article/543d3640e48348479be07cf54a732543

المؤلفون: Andrea Wilderman, Eva D’haene, Machteld Baetens, Tara N. Yankee, Emma Wentworth Winchester, Nicole Glidden, Ellen Roets, Jo Van Dorpe, Sandra Janssens, Danny E. Miller, Miranda Galey, Kari M. Brown, Rolf W. Stottmann, Sarah Vergult, K. Nicole Weaver, Samantha A. Brugmann, Timothy C. Cox, Justin Cotney

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-23 (2024)

مصطلحات موضوعية: Science

Relation: https://doi.org/10.1038/s41467-023-44506-2; https://doaj.org/toc/2041-1723; https://doaj.org/article/d8bfbb8f7d514cd7a8d154657d67b4ca

الاتاحة: https://doi.org/10.1038/s41467-023-44506-2
https://doaj.org/article/d8bfbb8f7d514cd7a8d154657d67b4ca

المؤلفون: Eliyahu Perl, Padmapriyadarshini Ravisankar, Manu E. Beerens, Lejla Mulahasanovic, Kelly Smallwood, Marion Bermúdez Sasso, Carina Wenzel, Thomas D. Ryan, Matej Komár, Kevin E. Bove, Calum A. MacRae, K. Nicole Weaver, Carlos E. Prada, Joshua S. Waxman

المصدر: HGG Advances, Vol 3, Iss 3, Pp 100115- (2022)

مصطلحات موضوعية: Syntaxin 4, SNARE, vesicular transport, congenital heart disease, dilated cardiomyopathy, conduction defects, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000318; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/69a4013e43b2410292ce66f8fe329a35

المؤلفون: Monika Oláhová, Bradley Peter, Zsolt Szilagyi, Hector Diaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville, Emma L. Blakely, Jack J. Collier, Emily Hoberg, Viktor Stránecký, Hana Hartmannová, Anthony J. Bleyer, Kim L. McBride, Sasigarn A. Bowden, Zuzana Korandová, Alena Pecinová, Hans-Hilger Ropers, Kimia Kahrizi, Hossein Najmabadi, Mark A. Tarnopolsky, Lauren I. Brady, K. Nicole Weaver, Carlos E. Prada, Katrin Õunap, Monica H. Wojcik, Sander Pajusalu, Safoora B. Syeda, Lynn Pais, Elicia A. Estrella, Christine C. Bruels, Louis M. Kunkel, Peter B. Kang, Penelope E. Bonnen, Tomáš Mráček, Stanislav Kmoch, Gráinne S. Gorman, Maria Falkenberg, Claes M. Gustafsson, Robert W. Taylor

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/35895711cd76476484b7067a5177046a

المؤلفون: van Woerden, Geeske M, Senden, Richelle, de Konink, Charlotte, Trezza, Rossella Avagliano, Baban, Anwar, Bassetti, Jennifer Alisha, van Bever, Yolande, Bird, Lynne M, van Bon, Bregje W, Brooks, Alice S, Guan, Qiaoning, Klee, Eric W, Marcelis, Carlo, Rosado, Joel Morales, Schimmenti, Lisa A, Shikany, Amy R, Terhal, Paulien A, Nicole Weaver, K, Wessels, Marja W, van Wieringen, Hester, Hurst, Anna C, Gooch, Catherine F, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Tartaglia, Marco, Niceta, Marcello, Elgersma, Ype, Demirdas, Serwet

المصدر: van Woerden, Geeske M; Senden, Richelle; de Konink, Charlotte; Trezza, Rossella Avagliano; Baban, Anwar; Bassetti, Jennifer Alisha; van Bever, Yolande; Bird, Lynne M; van Bon, Bregje W; Brooks, Alice S; Guan, Qiaoning; Klee, Eric W; Marcelis, Carlo; Rosado, Joel Morales; Schimmenti, Lisa A; Shikany, Amy R; Terhal, Paulien A; Nicole Weaver, K; Wessels, Marja W; van Wieringen, Hester; Hurst, Anna C; Gooch, Catherine F; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Tartaglia, Marco; Niceta, Marcello; Elgersma, Ype; Demirdas, Serwet (2022). The MAP3K7 gene: further delineation of clinical characteristics and genotype/phenotype correlations. Human Mutation, 43(10):1377-1395.

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, MAP3K7, frontometaphyseal dysplasia type 2, cardiospondylocarpofacial syndrome, Noonan Syndrome

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/219335/1/Human_Mutation___2022___Woerden___The_MAP3K7_gene__further_delineation_of_clinical_characteristics_and_genotype_phenotype.pdf; https://www.zora.uzh.ch/id/eprint/219335/2/humu24425_sup_0001_supp_mat.pdf; info:pmid/35730652; urn:issn:1059-7794

الاتاحة: https://www.zora.uzh.ch/id/eprint/219335/
https://www.zora.uzh.ch/id/eprint/219335/1/Human_Mutation___2022___Woerden___The_MAP3K7_gene__further_delineation_of_clinical_characteristics_and_genotype_phenotype.pdf
https://www.zora.uzh.ch/id/eprint/219335/2/humu24425_sup_0001_supp_mat.pdf
https://doi.org/10.1002/humu.24425

المؤلفون: Benn Sartorius, John Van der Heide, Mingyou Yang, Erik Goosmann, Julia Hon, Emily Haeuser, Michael Cork, Samantha Perkins, Deepa Jahagirdar, Lauren Schaeffer, Audrey Serfes, Kate LeGrand, Hedayat Abbastabar, Zeleke Abebo, Akine Abosetugn, Eman Abu-Gharbieh, Manfred Accrombessi, Oladimeji Adebayo, Adeyinka Adegbosin, Victor Adekanmbi, Olatunji Adetokunboh, Daniel Adeyinka, Bright Ahinkorah, Keivan Ahmadi, Muktar Ahmed, Yonas Akalu, Oluwaseun Akinyemi, Rufus Akinyemi, Addis Aklilu, Chisom Akunna, Fares Alahdab, Ziyad Al-Aly, Noore Alam, Alehegn Alamneh, Turki Alanzi, Biresaw Alemu, Robert Alhassan, Tilahun Ali, Vahid Alipour, Saeed Amini, Robert Ancuceanu, Fereshteh Ansari, Zelalem Anteneh, Davood Anvari, Razique Anwer, Seth Appiah, Jalal Arabloo, Mulusew Asemahagn, Mohammad Jafarabadi, Wondwossen Asmare, Desta Atnafu, Maha Atout, Alok Atreya, Marcel Ausloos, Atalel Awedew, Beatriz Quintanilla, Martin Ayanore, Yared Aynalem, Muluken Ayza, Samad Azari, Zelalem Azene, Zaheer-Ud-Din Babar, Atif Baig, Senthilkumar Balakrishnan, Maciej Banach, Till Barnighausen, Sanjay Basu, Mohsen Bayati, Neeraj Bedi, Tariku Bekuma, Woldesellassie Bezabhe, Akshaya Bhagavathula, Pankaj Bhardwaj, Krittika Bhattacharyya, Zulfiqar Bhutta, Sadia Bibi, Boris Bikbov, Tsegaye Birhan, Zebenay Bitew, Moses Bockarie, Archith Boloor, Oliver Brady, Nicola Bragazzi, Andrey Briko, Nikolay Briko, Sharath Nagaraja, Zahid Butt, Rosario Cardenas, Felix Carvalho, Jaykaran Charan, Souranshu Chatterjee, Soosanna Chattu, Vijay Chattu, Mohiuddin Chowdhury, Dinh-Toi Chu, Aubrey Cook, Natalie Cormier, Richard Cowden, Carlos Culquichicon, Baye Dagnew, Saad Dahlawi, Giovanni Damiani, Parnaz Daneshpajouhnejad, Farah Daoud, Ahmad Daryani, Jose das Neves, Nicole Weaver, Meseret Molla, Kebede Deribe, Abebaw Desta, Keshab Deuba, Samath Dharmaratne, Govinda Dhungana, Daniel Diaz, Shirin Djalalinia, Paul Doku, Eleonora Dubljanin, Bereket Duko, Arielle Eagan, Lucas Earl, Jeffrey Eaton, Andem Effiong, Maysaa Zaki, Maha El Tantawi, Rajesh Elayedath, Shaimaa El-Jaafary, Aisha Elsharkawy, Sharareh Eskandarieh, Oghenowede Eyawo, Sayeh Ezzikouri, Abidemi Fasanmi, Alebachew Fasil, Nelsensius Fauk, Valery Feigin, Tomas Ferede, Eduarda Fernandes, Florian Fischer, Nataliya Foigt, Morenike Folayan, Masoud Foroutan, Joel Francis, Takeshi Fukumoto, Mohamed Gad, Biniyam Geberemariyam, Birhan Gebregiorgis, Berhe Gebremichael, Hailay Gesesew, Lemma Getacher, Keyghobad Ghadiri, Ahmad Ghashghaee, Syed Gilani, Themba Ginindza, Mustefa Glagn, Mahaveer Golechha, Philimon Gona, Mohammed Gubari, Harish Gugnani, Davide Guido, Rashid Guled, Brian Hall, Samer Hamidi, Demelash Handiso, Arief Hargono, Abdiwahab Hashi, Soheil Hassanipour, Hadi Hassankhani, Khezar Hayat, Claudiu Herteliu, Hagos de Hidru, Ramesh Holla, H Hosgood, Naznin Hossain, Mostafa Hosseini, Mehdi Hosseinzadeh, Mowafa Househ, Bing-Fang Hwang, Segun Ibitoye, Olayinka Ilesanmi, Irena Ilic, Milena Ilic, Seyed Irvani, Chidozie Iwu, Chinwe Iwu, Ihoghosa Iyamu, Vardhmaan Jain, Mihajlo Jakovljevic, Farzad Jalilian, Ravi Jha, Kimberly Johnson, Vasna Joshua, Farahnaz Joukar, Jacek Jozwiak, Ali Kabir, Leila Kalankesh, Rohollah Kalhor, Ashwin Kamath, Naser Kamyari, Tanuj Kanchan, Behzad Matin, Andre Karch, Salah Karimi, Ayele Kasa, Getinet Kassahun, Gbenga Kayode, Ali Karyani, Peter Keiyoro, Bayew Kelkay, Nauman Khalid, Gulfaraz Khan, Junaid Khan, Md Khan, Khaled Khatab, Salman Khazaei, Yun Kim, Adnan Kisa, Sezer Kisa, Sonali Kochhar, Jacek Kopec, Soewarta Kosen, Sindhura Laxminarayana, Ai Koyanagi, Kewal Krishan, Barthelemy Defo, Nuworza Kugbey, Vaman Kulkarni, Manasi Kumar, Nithin Kumar, Om Kurmi, Dian Kusuma, Desmond Kuupiel, Hmwe Kyu, Carlo La Vecchia, Dharmesh Lal, Jennifer Lam, Ivan Landires, Savita Lasrado, Jeffrey Lazarus, Alice Lazzar-Atwood, Paul Lee, Cheru Leshargie, Bingyu Li, Xuefeng Liu, Platon Lopukhov, Hawraz Amin, Deepak Madi, Phetole Mahasha, Azeem Majeed, Afshin Maleki, Shokofeh Maleki, Abdullah Mamun, Navid Manafi, Mohammad Mansournia, Francisco Martins-Melo, Seyedeh Masoumi, Benjamin Mayala, Birhanu Meharie, Hailemariam Meheretu, Hagazi Meles, Mulugeta Melku, Walter Mendoza, Endalkachew Mengesha, Tuomo Meretoja, Abera Mersha, Tomislav Mestrovic, Ted Miller, Andreea Mirica, Mehdi Alavijeh, Osama Mohamad, Yousef Mohammad, Abdollah Mohammadian-Hafshejani, Jemal Mohammed, Salahuddin Mohammed, Shafiu Mohammed, Ali Mokdad, Taklu Mokonnon, Mariam Molokhia, Masoud Moradi, Yousef Moradi, Rahmatollah Moradzadeh, Paula Moraga, Jonathan Mosser, Sandra Munro, Ghulam Mustafa, Saravanan Muthupandian, Mehdi Naderi, Ahamarshan Nagarajan, Mohsen Naghavi, Muhammad Naveed, Vinod Nayak, Javad Nazari, Rawlance Ndejjo, Samata Nepal, Henok Netsere, Frida Ngalesoni, Georges Nguefack-Tsague, Josephine Ngunjiri, Yeshambel Nigatu, Samuel Nigussie, Chukwudi Nnaji, Jean Noubiap, Virginia Nunez-Samudio, Bogdan Oancea, Oluwakemi Odukoya, Felix Ogbo, Olanrewaju Oladimeji, Andrew Olagunju, Bolajoko Olusanya, Jacob Olusanya, Muktar Omer, Abidemi Omonisi, Obinna Onwujekwe, Orish Orisakwe, Nikita Otstavnov, Mayowa Owolabi, P Mahesh, Jagadish Padubidri, Smita Pakhale, Adrian Pana, Seithikurippu Pandi-Perumal, Urvish Patel, Mona Pathak, George Patton, Shrikant Pawar, Emmanuel Peprah, Khem Pokhrel, Maarten Postma, Faheem Pottoo, Hadi Pourjafar, Dimas Pribadi, Zahiruddin Syed, Alireza Rafiei, Fakher Rahim, Mohammad Rahman, Amir Rahmani, Pradhum Ram, Juwel Rana, Chhabi Ranabhat, Satish Rao, Sowmya Rao, Priya Rathi, David Rawaf, Salman Rawaf, Reza Rawassizadeh, Vishnu Renjith, Melese Reta, Nima Rezaei, Aziz Rezapour, Ana Ribeiro, Jennifer Ross, Susan Rumisha, Rajesh Sagar, Maitreyi Sahu, S Sajadi, Marwa Salem, Abdallah Samy, Brijesh Sathian, Aletta Schutte, Abdul-Aziz Seidu, Feng Sha, Omid Shafaat, Mohammad Shahbaz, Masood Shaikh, Mohammed Shaka, Aziz Sheikh, Kenji Shibuya, Jae Shin, K Shivakumar, Negussie Sidemo, Jasvinder Singh, Valentin Skryabin, Anna Skryabina, Amin Soheili, Shahin Soltani, Oluwaseyi Somefun, Muluken Sorrie, Emma Spurlock, Mu'awiyyah Sufiyan, Biruk Taddele, Eyayou Tadesse, Zemenu Tamir, Animut Tamiru, Frank Tanser, Nuno Taveira, Arash Tehrani-Banihashemi, Yohannes Tekalegn, Fisaha Tesfay, Belay Tessema, Zemenu Tessema, Bhaskar Thakur, Musliu Tolani, Roman Topor-Madry, Marco Torrado, Marcos Tovani-Palone, Eugenio Traini, Alexander Tsai, Gebiyaw Tsegaye, Irfan Ullah, Saif Ullah, Chukwuma Umeokonkwo, Bhaskaran Unnikrishnan, Constantine Vardavas, Francesco Violante, Bay Vo, Yohannes Wado, Yasir Waheed, Richard Wamai, Yanzhong Wang, Paul Ward, Andrea Werdecker, Nuwan Wickramasinghe, Tissa Wijeratne, Charles Wiysonge, Temesgen Wondmeneh, Tomohide Yamada, Sanni Yaya, Yigizie Yeshaw, Yordanos Yeshitila, Mekdes Yilma, Paul Yip, Naohiro Yonemoto, Tewodros Yosef, Hasan Yusefzadeh, Syed Zaidi, Leila Zaki, Maryam Zamanian, Mikhail Zastrozhin, Anasthasia Zastrozhina, Dejene Zewdie, Yunquan Zhang, Zhi-Jiang Zhang, Arash Ziapour, Simon Hay, Laura Dwyer-Lindgren

مصطلحات موضوعية: Uncategorized, Science & Technology, Life Sciences & Biomedicine, Immunology, Infectious Diseases, PREVENTION

Relation: 2381/19236816.v1; https://figshare.com/articles/journal_contribution/Subnational_mapping_of_HIV_incidence_and_mortality_among_individuals_aged_15-49_years_in_sub-Saharan_Africa_2000-18_a_modelling_study/19236816

الاتاحة: https://figshare.com/articles/journal_contribution/Subnational_mapping_of_HIV_incidence_and_mortality_among_individuals_aged_15-49_years_in_sub-Saharan_Africa_2000-18_a_modelling_study/19236816

المؤلفون: K. Nicole Weaver, Karen W. Gripp

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190:494-500

مصطلحات موضوعية: Heart Defects, Congenital, Central Nervous System, Noonan Syndrome, Mutation, Genetics, Humans, Facies, Genetics (clinical), Failure to Thrive, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e15791d70c1b8d1eb5ae2100a8f64aa
https://doi.org/10.1002/ajmg.c.32023

المؤلفون: Gabrielle C. Geddes, John J. Parent, Julie Lander, Aamir Jeewa, Stephanie M. Ware, Chet Villa, Kathryn C. Chatfield, K. Nicole Weaver

المصدر: Journal of the American College of Cardiology. 81:1439-1441

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f4e06e4753b4af7c69c82d698b3659db
https://doi.org/10.1016/j.jacc.2023.02.010

المؤلفون: Yuri A. Zarate, Shaine A. Morris, Anna Blackshare, Claudia A. Algaze, Brynn S. Connor, Andrew J. Kim, Katherine E. Yutzey, Erin M. Miller, Kathryn Nicole Weaver, Ronnie Thomas Collins

المصدر: Genetics in Medicine. 24:1503-1511

مصطلحات موضوعية: Phenotype, Child, Preschool, Fibrillin-1, Mutation, Infant, Newborn, Humans, Reproducibility of Results, Fibrillins, Infant, Newborn, Diseases, Genetics (clinical), Marfan Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2412e6095e6057e82b0b8fc40b54efe9
https://doi.org/10.1016/j.gim.2022.03.016

المؤلفون: Christopher M. Runyan, MD, PhD, Armando Uribe-Rivera, DDS, Shahryar Tork, MD, Tasneem A. Shikary, MD, Zarmina Ehsan, MD, K. Nicole Weaver, MD, Md Monir Hossain, PhD, MSc, Christopher B. Gordon, MD, Brian S. Pan, MD

المصدر: Plastic and Reconstructive Surgery, Global Open, Vol 6, Iss 5, p e1688 (2018)

مصطلحات موضوعية: Surgery, RD1-811

وصف الملف: electronic resource

Relation: http://journals.lww.com/prsgo/fulltext/10.1097/GOX.0000000000001688; https://doaj.org/toc/2169-7574

URL الوصول: https://doaj.org/article/8b37a9f9142f43a4af58e77275e8ff38

المؤلفون: Stephanie A. Balow, Robert J. Hopkin, Sara Hopkin, K. Nicole Weaver, Howard M. Saal, Rolf W. Stottmann, Xue Zhang, Patricia L. Bender, Brian S. Pan, Bonnie Sullivan, Barbara A. Chini

المصدر: American Journal of Medical Genetics Part A. 188:160-177

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Robin Sequence, Pierre Robin Syndrome, Respiratory distress, business.industry, Micrognathism, Glossoptosis, Infant, Newborn, Airway obstruction, medicine.disease, Feeding difficulty, Airway Obstruction, Cleft Palate, Management implications, Genetics, medicine, Humans, Medical diagnosis, medicine.symptom, Child, business, Genetics (clinical), Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::900946e97783d80b99e6220ba88a3510
https://doi.org/10.1002/ajmg.a.62515

المؤلفون: Elizabeth K. Baker, Casey J. Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M. Wied, Beth M. Kline‐Fath, Teresa A. Smolarek, K. Nicole Weaver, Robert J. Hopkin

المصدر: American journal of medical genetics. Part AREFERENCES.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2bd67231350e018680bf3b16da0368c
https://pubmed.ncbi.nlm.nih.gov/36433683

المؤلفون: Abdulrahman Almesned, Dorien Schepers, Mehran Beiraghi Toosi, Zuhair N. Al-Hassnan, Jill A. Rosenfeld, Erin M. Miller, Hassan Mottaghi Moghaddam Shahri, Maaike Alaerts, Melanie Perik, Desiderio Rodrigues, Aline Verstraeten, Reza Maroofian, Silke Peeters, Cédric H. G. Neutel, Ilse Luyckx, Nicole Revencu, Jenny C. Taylor, Jarl Bastianen, Isabel Pintelon, Henry Houlden, Matteo P. Ferla, Erik Fransen, Kayal Vijayakumar, Lut Van Laer, Anthony R. Dallosso, Mandy Vermont, Isabelle Maystadt, Lotte Van Den Heuvel, Thierry Sluysmans, David Murphy, K. Nicole Weaver, Paria Najarzadeh Torbati, Jotte Rodrigues Bento, Amber Begtrup, Maggie Williams, Ilse Van Gucht, Maaike Bastiaansen, Ashish Chikermane, Gangadhara Bharmappanavara, Alistair T. Pagnamenta, Bart Loeys, Joe Davis Velchev, Julie Evans, Josephina A.N. Meester, Narges Hashemi, Julie Vogt, Pieter-Jan Guns

المساهمون: Genomics England Res Consortium

المصدر: The American Journal of Human Genetics
American Journal of Human Genetics, 108, 1115-1125
American Journal of Human Genetics, 108, 6, pp. 1115-1125
Am J Hum Genet
The American journal of human genetics

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, MMP2, Loss of Heterozygosity, Importin, 030204 cardiovascular system & hematology, Biology, Importin 8, Loeys–Dietz syndrome, Thoracic aortic aneurysm, Mice, Young Adult, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Loss of Function Mutation, Transforming Growth Factor beta, Report, TGF beta signaling pathway, Genetics, medicine, Animals, Humans, Child, Genetics (clinical), Mice, Knockout, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Aortic Aneurysm, Thoracic, Syndrome, beta Karyopherins, medicine.disease, Pedigree, Cell biology, Mice, Inbred C57BL, CTGF, Phenotype, 030104 developmental biology, Child, Preschool, Knockout mouse, Female, Human medicine, Signal Transduction

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b24e6c0679dae811ef67aedbd6e7ffa5
https://doi.org/10.1016/j.ajhg.2021.04.019

المؤلفون: Alyce Belonis, Laura Riley, Nicole Brown, Justin T. Tretter, Shumpei Mori, Erin M. Miller, Tarek Alsaied, Hassan Almeneisi, Shannon K Powell, Kathryn Nicole Weaver, Amy R. Shikany

المصدر: Pediatric Cardiology. 42:1157-1161

مصطلحات موضوعية: Marfan syndrome, medicine.medical_specialty, education.field_of_study, business.industry, Population, Diastole, 030204 cardiovascular system & hematology, medicine.disease, Loeys–Dietz syndrome, Cardiac surgery, 03 medical and health sciences, 0302 clinical medicine, 030228 respiratory system, Parasternal line, medicine.artery, Internal medicine, Pediatrics, Perinatology and Child Health, Ascending aorta, medicine, Cardiology, Transthoracic echocardiogram, Cardiology and Cardiovascular Medicine, business, education

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c5a1d0ba0093709e171c8946627ec2a1
https://doi.org/10.1007/s00246-021-02594-1

المؤلفون: K Nicole, Weaver, Jing, Chen, Amy, Shikany, Pete S, White, Carlos E, Prada, Bruce D, Gelb, James F, Cnota

المصدر: Circulation: Genomic and Precision Medicine. 15

مصطلحات موضوعية: Heart Defects, Congenital, Pulmonary Valve Stenosis, Noonan Syndrome, Prevalence, Humans, Exome, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30a9ac999fdd41f8175ba0021b7555f5
https://doi.org/10.1161/circgen.121.003635