المؤلفون: Chung, Wendy, Ziegler, Alban, Koval-Burt, Carrie, Kay, Denise, Suchy, Sharon, Bergtrup, Amber, Langley, Katherine, Amendola, Laura, Boyd, Brenna, Bradley, Jennifer, Brandt, Tracy, Cohen, Lilian, Coffey, Alison, Devaney, Joseph, Dygulska, Beata, Friedman, Bethany, Fuleihan, Ramsey, Gyimah, Awura, Hernan, Rebecca, Hofherr, Sean, Hruska, Kathleen, Hu, Zhanzhi, Jeanne, Mederic, Jin, Guanjun, Johnson, Aaron, Kavus, Haluk, Leibel, Rudolph, McWalter, Kirsty, Monaghan, Kristin, Soler, Nicole Pimentel, Quevedo, Yeyson, Ratner, Samantha, Retterer, Kyle, Shapiro, Natasha, Sicko, Robert, Storm, Samuel, Torene, Rebecca, Williams, Olatundun, Wynn, Julia, Taft, Ryan, Kruszka, Paul, Caggana, Michele

المصدر: Genetics in Medicine Open ; volume 2, page 101369 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101369Test
https://api.elsevier.com/content/article/PII:S2949774424005156?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424005156?httpAccept=text/plainTest

المؤلفون: Acharya, Anushree, Kavus, Haluk, Dunn, Patrick, Nasir, Abdul, Folk, Leandra, Withrow, Kara, Wentzensen, Ingrid M., Ruzhnikov, Maura R. Z., Fallot, Camille, Smol, Thomas, Rama, Melanie, Brown, Kathleen, Whalen, Sandra, Ziegler, Alban, Barth, Magali, Chassevent, Anna, Smith-Hicks, Constance, Afenjar, Alexandra, Courtin, Thomas, Heide, Solveig, Font-Montgomery, Esperanza, Heid, Caleb, Hamm, J. Austin, Love, Donald R., Thabet, Farouq, Misra, Vinod K., Cunningham, Mitch, Leal, Suzanne M., Järvelä, Irma, Normand, Elizabeth A., Zou, Fanggeng, Helal, Mayada, Keren, Boris, Torti, Erin, Chung, Wendy K., Schrauwen, Isabelle

المساهمون: Irma Järvelä / Principal Investigator, Medicum, Department of Medical and Clinical Genetics

مصطلحات موضوعية: neurology, genetic variation, phenotype, human genetics, INTELLECTUAL DISABILITY, UBIQUITIN LIGASE, VARIANTS, HECW2, MUTATIONS, NEDL2, GENETICS, GENES, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: WKC is funded by grants from the JPB Foundation and Simons Foundation. IS is supported by a pilot grant from the Columbia University Sergievsky Center.; Acharya , A , Kavus , H , Dunn , P , Nasir , A , Folk , L , Withrow , K , Wentzensen , I M , Ruzhnikov , M R Z , Fallot , C , Smol , T , Rama , M , Brown , K , Whalen , S , Ziegler , A , Barth , M , Chassevent , A , Smith-Hicks , C , Afenjar , A , Courtin , T , Heide , S , Font-Montgomery , E , Heid , C , Hamm , J A , Love , D R , Thabet , F , Misra , V K , Cunningham , M , Leal , S M , Järvelä , I , Normand , E A , Zou , F , Helal , M , Keren , B , Torti , E , Chung , W K & Schrauwen , I 2022 , ' Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders ' , Journal of Medical Genetics , vol. 59 , pp. 669–677 . https://doi.org/10.1136/jmedgenet-2021-107871Test; ORCID: /0000-0002-1770-6187/work/127003138; e3ee1496-7280-490f-9cbe-b4337608689c; http://hdl.handle.net/10138/353339Test; 000728118500001

الإتاحة: http://hdl.handle.net/10138/353339Test

المؤلفون: Chung, Wendy K., Schacht, John P., Kavus, Haluk

المصدر: Principles of Neonatology ; page 671-676 ; ISBN 9780323694155

الإتاحة: https://doi.org/10.1016/b978-0-323-69415-5.00077-1Test
https://api.elsevier.com/content/article/PII:B9780323694155000771?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:B9780323694155000771?httpAccept=text/plainTest

المؤلفون: Kavus, Haluk¹, Yi Ding¹, Dhesi, Mary¹ mdhesi@geisinger.edu

المصدر: Archives of Pathology & Laboratory Medicine. Mar2024, Vol. 148 Issue 3, p292-298. 7p.

مصطلحات موضوعية: *HEMATOLOGIC malignancies, *TUMOR markers, *IMMUNOHISTOCHEMISTRY, *LYMPHOID tissue, *B cell lymphoma, *HODGKIN'S disease

الشركة/الكيان: WORLD Health Organization

المؤلفون: Garrity, Madison, Kavus, Haluk, Rojas-Vasquez, Marta, Valenzuela, Irene, Larson, Austin, Reed, Sara, Bellus, Gary, Mignot, Cyril, Munnich, Arnold, Isidor, Bertrand, Chung, Wendy, K

المساهمون: Columbia University New York, Columbia University Medical Center (CUMC), Stollery Children’s Hospital, Vall d'Hebron University Hospital Barcelona, University of Colorado Denver, Geisinger Health System Danville, PA, USA, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière AP-HP, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), ITX-lab unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)

المصدر: ISSN: 2373-2873 ; Cold Spring Harbor molecular case studies ; https://hal.sorbonne-universite.fr/hal-04538559Test ; Cold Spring Harbor molecular case studies, 2021, 7 (4), pp.a006092. ⟨10.1101/mcs.a006092⟩.

مصطلحات موضوعية: intellectual disability, severe microcephaly, severe global developmental delay, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34021018; hal-04538559; https://hal.sorbonne-universite.fr/hal-04538559Test; https://hal.sorbonne-universite.fr/hal-04538559/documentTest; https://hal.sorbonne-universite.fr/hal-04538559/file/Cold%20Spring%20Harb%20Mol%20Case%20Stud-2021-Garrity-a006092.pdfTest; PUBMED: 34021018; PUBMEDCENTRAL: PMC8327885

الإتاحة: https://doi.org/10.1101/mcs.a006092Test
https://hal.sorbonne-universite.fr/hal-04538559Test
https://hal.sorbonne-universite.fr/hal-04538559/documentTest
https://hal.sorbonne-universite.fr/hal-04538559/file/Cold%20Spring%20Harb%20Mol%20Case%20Stud-2021-Garrity-a006092.pdfTest

المؤلفون: Acharya, Anushree, Kavus, Haluk, Dunn, Patrick, Nasir, Abdul, Folk, Leandra, Withrow, Kara, Wentzensen, Ingrid, M, Ruzhnikov, Maura, R Z, Fallot, Camille, Smol, Thomas, Rama, Mélanie, Brown, Kathleen, Whalen, Sandra, Ziegler, Alban, Barth, Magali, Chassevent, Anna, Smith-Hicks, Constance, Afenjar, Alexandra, Courtin, Thomas, Heide, Solveig, Font-Montgomery, Esperanza, Heid, Caleb, Hamm, J. Austin, Love, Donald, R, Thabet, Farouq, Misra, Vinod, K, Cunningham, Mitch, Leal, Suzanne, M, Jarvela, Irma, Normand, Elizabeth, A, Zou, Fanggeng, Helal, Mayada, Keren, Boris, Torti, Erin, Chung, Wendy, K, Schrauwen, Isabelle

المساهمون: Columbia University Medical Center (CUMC), Columbia University New York, The George Washington University (GW), University of Agriculture Faisalabad - UAF (PAKISTAN), GeneDx Gaithersburg, MD, USA, Stanford University, Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Institut de génétique médicale, University of Colorado Anschutz Aurora, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Kennedy Krieger Institute Baltimore, Johns Hopkins University School of Medicine Baltimore, CHU Pitié-Salpêtrière AP-HP, University of Missouri Columbia (Mizzou), University of Missouri System, Sidra Medicine Doha, Qatar, Children's Hospital of Michigan, Central Michigan University (CMU), Helsingin yliopisto = Helsingfors universitet = University of Helsinki

المصدر: ISSN: 0022-2593.

مصطلحات موضوعية: genetic variation, human genetics, neurology, phenotype, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34321324; hal-03998194; https://hal.science/hal-03998194Test; https://hal.science/hal-03998194/documentTest; https://hal.science/hal-03998194/file/HECW2_main_Tables_updated.pdfTest; PUBMED: 34321324

الإتاحة: https://doi.org/10.1136/jmedgenet-2021-107871Test
https://hal.science/hal-03998194Test
https://hal.science/hal-03998194/documentTest
https://hal.science/hal-03998194/file/HECW2_main_Tables_updated.pdfTest

المؤلفون: Okur, Volkan, Hamm, Laura, Kavus, Haluk, Mebane, Caroline, Robinson, Scott, Levy, Brynn, Chung, Wendy K.

المصدر: Genetics in Medicine ; volume 23, issue 12, page 2342-2351 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-021-01270-2Test
https://www.nature.com/articles/s41436-021-01270-2.pdfTest
https://www.nature.com/articles/s41436-021-01270-2Test
https://api.elsevier.com/content/article/PII:S1098360021054496?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021054496?httpAccept=text/plainTest

المؤلفون: F Ceyda Akin Ocal, Kavus Haluk, Pehli van Davut, Satar Bulent

المصدر: Journal of Audiology and Otology. 26:97-102

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Semicircular canal, Hearing loss, business.industry, Dehiscence, medicine.disease, Sensory Systems, Conductive hearing loss, Speech and Hearing, medicine.anatomical_structure, medicine, Missense mutation, Otosclerosis, Superior semicircular canal dehiscence syndrome, medicine.symptom, business, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3dca99885a7bec3c4c858aebfd8efb3fTest
https://doi.org/10.7874/jao.2021.00381Test

المؤلفون: Satgunaseelan, Laveniya, Sukhanova, Madina, Toruner, Gokce, Danos, Arpad, Allen, Destiney, Akesson, Lauren, Corson, Laura, Farzanmehr, Haleh, Gonzalez, Ariana, Grisdale, Cameron, Kavus, Haluk, Li, Yuwen, Lively, Tracy, Melas, Marilena, Merker, Jason, Rao, Mamta, Selvarajah, Shamini, Shi, Zonggao, Sonkin, Dmitriy, Spiteri, Elizabeth, Williams, Heather, Zhao, Xiaonan, Zhong, Yiming, Saliba, Jason, Griffith, Obi, Griffith, Malachi, King, Ian

المصدر: Cancer Genetics ; volume 278-279, page 29 ; ISSN 2210-7762

مصطلحات موضوعية: Cancer Research, Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1016/j.cancergen.2023.08.102Test
https://api.elsevier.com/content/article/PII:S2210776223001515?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2210776223001515?httpAccept=text/plainTest

المؤلفون: İstifli, Erman Salih, Uğur, Sami, Kozan, Salih, Demirci, Ramazan, Kaya, Engin, Irkılata, Hasan Cem, Kavuş, Haluk, Tunca, Yusuf

المساهمون: Çukurova Üniversitesi, Fen-Edebiyat Fakültesi, Biyoloji Bölümü, orcid:0000-0003-2189-0703, İstifli, Erman

مصطلحات موضوعية: Azospermi, 22 translokasyon

الوقت: 4

وصف الملف: application/pdf

العلاقة: 11. Ulusal Androloji Kongresi; Konferans Öğesi - Ulusal - Kurum Öğretim Elemanı; https://hdl.handle.net/20.500.12605/36192Test; EP-065

الإتاحة: https://doi.org/20.500.12605/36192Test
https://hdl.handle.net/20.500.12605/36192Test