المؤلفون: Min Xie, Jiangyang Xue, Yuxin Zhang, Ying Zhou, Qi Yu, Haibo Li, Qiong Li

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: case report, optical genome mapping, cryptic balanced translocation, unbalanced chromosomal rearrangements, multiple anomalies, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1248544/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/cee520446a1843b88d3fe36b33a0e055

المؤلفون: Mariano Stabile, Anna F. Rispoli, Maurizio Capuozzo, Umberto Ferbo, Guglielmo Stabile

المصدر: Clinical Case Reports, Vol 11, Iss 7, Pp n/a-n/a (2023)

مصطلحات موضوعية: 16p12.2 microdeletion, bifid cardiac apex, multiple anomalies, prenatal ultrasound, spongiform cardiomyopathy, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/a0cdd4ebe4854c86b1a26637a4982509

المؤلفون: Akimi Ishikawa, Asako Yamamoto, Hirofumi Ohashi, Hisayuki Oda, Kaoru Obinata, Rina Ishida, Taiki Shima, Takahiro Niizuma, Toshiaki Shimizu, Toshiyuki Yoneyama, 大日方 薫, 大橋 博文, 山本 麻子, 嶋 泰樹, 新妻 隆広, 清水 俊明, 石川 有希美, 石田 理奈, 米山 俊之, 織田 久之

المصدر: 日本小児放射線学会雑誌 / Journal of Japanese Society of Pediatric Radiology. 2023, 39(1):41

المؤلفون: Trianto, Rizal, Nurhadi, Pradana, Daryanto, Besut

المصدر: Jurnal Kedokteran Brawijaya; Vol. 32 No. 2 (2022); p.133-137 ; 2338-0772 ; 0216-9347

مصطلحات موضوعية: Diphallia, multiple anomalies

وصف الملف: application/pdf

Relation: https://jkb.ub.ac.id/index.php/jkb/article/view/3259/943; https://jkb.ub.ac.id/index.php/jkb/article/view/3259

الاتاحة: https://jkb.ub.ac.id/index.php/jkb/article/view/3259
https://doi.org/10.21776/ub.jkb.2022.032.02.10

المؤلفون: Atsushi Terazawa, Hiroko Goto, Kentaro Omoya, Naoki Kuwabara, Sadahiro Kato, Takamasa Takeuchi, Takashi Kuwahara, Tatsuhiko Masue, Tetsuya Yamamoto, Toshihide Nishimori, Yuki Nakayama, Yusuke Iwata, 中山 祐樹, 加藤 禎洋, 増江 達彦, 寺澤 厚志, 山本 哲也, 岩田 祐輔, 後藤 浩子, 桑原 尚志, 桑原 直樹, 竹内 敬昌, 西森 俊秀, 面家 健太郎

المصدر: 日本小児循環器学会雑誌 / Pediatric Cardiology and Cardiac Surgery. 2021, 37(3):233

المؤلفون: Cordier, Sylvaine, Bergeret, Alain, Goujard, Janine, Ha, Marie-Catherine, Aymé, Ségolène, Bianchi, Fabrizio, Calzolari, Elisa, Knill-Jones, Robin, Candela, Silvia, Dale, Ian, Dananché, Brigitte, de Vigan, Catherine, Fevotte, Joëlle, Kiel, Gert, Mandereau, Laurence

المصدر: Epidemiology, 1997 Jul 01. 8(4), 355-363.

URL الوصول: https://www.jstor.org/stable/3702574

المؤلفون: San Rame, Valeria, Castro Monsonis, Stella Maris, Damia, Ana Laura

مصطلحات موضوعية: Ciencias Médicas, Pediatría, Síndrome de Deleción 22q11, Hibridación Fluorescente In Situ, Anomalías Múltiples, Cardiopatías Congénitas, 22q11 Deletion Syndrome, Fluorescent in Situ Hybridization, Multiple Anomalies, Congenital Heart Disease

وصف الملف: application/pdf; 7-15

Relation: https://digital.cic.gba.gob.ar/handle/11746/12042

الاتاحة: https://digital.cic.gba.gob.ar/handle/11746/12042

المؤلفون: de Geus, C. M., Bergman, J. E. H., van Ravenswaaij-Arts, C. M. A., Meiners, L. C.

المصدر: de Geus , C M , Bergman , J E H , van Ravenswaaij-Arts , C M A & Meiners , L C 2018 , ' Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development : A Case-Control Study ' , American Journal of Neuroradiology , vol. 39 , no. 10 , pp. 1938-1942 . https://doi.org/10.3174/ajnr.A5810

مصطلحات موضوعية: DIAGNOSTIC-CRITERIA, MULTIPLE ANOMALIES, CHOANAL ATRESIA, HEART-DISEASE, CHD7 GENE, ASSOCIATION, VARIANTS, MUTATION, PROPOSAL, UPDATE

وصف الملف: application/pdf

Relation: https://research.rug.nl/en/publications/526be362-c463-427f-9db8-358fe49da0f3

الاتاحة: https://hdl.handle.net/11370/526be362-c463-427f-9db8-358fe49da0f3
https://research.rug.nl/en/publications/526be362-c463-427f-9db8-358fe49da0f3
https://doi.org/10.3174/ajnr.A5810
https://pure.rug.nl/ws/files/65539489/ajnr.A5810.full.pdf

المؤلفون: Chaitra Venkataswamy, Umamaheswari Gurusamy, S. Vidhya Lakshmi

المصدر: Journal of Laboratory Physicians, Vol 10, Iss 03, Pp 338-345 (2018)

مصطلحات موضوعية: congenital malformations, fetal autopsy, multiple anomalies, prenatal ultrasound, Medicine

Relation: https://doaj.org/toc/0974-2727; https://doaj.org/toc/0974-7826; https://doaj.org/article/9b884cb5c4a54dfe87c25a892c0614fc

الاتاحة: https://doi.org/10.4103/JLP.JLP_134_17
https://doaj.org/article/9b884cb5c4a54dfe87c25a892c0614fc

المؤلفون: Lipošćak, Katja

المساهمون: Pereza, Nina, Ostojić, Saša, Dević Pavlić, Sanja, Ristić, Smiljana

مصطلحات موضوعية: varijacija broja kopija, prirođene anomalije, copy number variations, BIOMEDICINE AND HEALTHCARE. Basic Medical Sciences. Human Genetics, Genomics and Proteomics, rekurentni mikrodelecijski sindromi, chromosome deletion, multiple anomalies, delecija kromosoma, intellectual disabilities, recurrent microdeletion syndromes, BIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti. Genetika, genomika i proteomika čovjeka, intelektualno zaostajanje

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b0a3d5594e4342bb9af58ad0c9b99353
https://repository.medri.uniri.hr/islandora/object/medri:6520/datastream/PDF

المؤلفون: van Ravenswaaij-Arts, Conny, Martin, Donna M.

المصدر: van Ravenswaaij-Arts , C & Martin , D M 2017 , ' New insights and advances in CHARGE syndrome : Diagnosis, etiologies, treatments, and research discoveries ' , American Journal of Medical Genetics. Part C-Seminars in Medical Genetics , vol. 175 , no. 4 , pp. 397-406 . https://doi.org/10.1002/ajmg.c.31592

مصطلحات موضوعية: CHARGE syndrome, HIGHLY MUTABLE LOCUS, CHD7 DEFICIENT MICE, NEURAL STEM-CELL, INNER-EAR, MOUSE MODEL, MULTIPLE ANOMALIES, CHOANAL ATRESIA, GENE-EXPRESSION, HEART-DISEASE, DEFECTS

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/ed06bd0a-ab58-4f15-926c-ea4ff0136dd8
https://research.rug.nl/en/publications/ed06bd0a-ab58-4f15-926c-ea4ff0136dd8
https://doi.org/10.1002/ajmg.c.31592
https://pure.rug.nl/ws/files/51952073/Ravenswaaij_Arts_et_al_2017_American_Journal_of_Medical_Genetics_Part_C_Seminars_in_Medical.pdf

المؤلفون: Zambrano Freire, Victoria Michelle, Armijos Moreta, Jaime Fernando, Gavilanez Villamarín, Silvia

المصدر: Revista Arbitrada Interdisciplinaria de Ciencias de la Salud. Salud y Vida, ISSN 2610-8038, Vol. 6, Nº. 3, 2022358 pags.

مصطلحات موضوعية: Health Sciences, Multiple anomalies, dental x-ray, patients (Source: DeCS), Ciencias de la salud, Anomalías múltiples, radiografía dental, pacientes (Fuente: DeCS)

وصف الملف: application/pdf

Relation: https://dialnet.unirioja.es/servlet/oaiart?codigo=8966182; (Revista) ISSN 2610-8038

الاتاحة: https://dialnet.unirioja.es/servlet/oaiart?codigo=8966182

المؤلفون: Seydel Legra Nápoles, Rosa Maria Naranjo Fernández, Lucy Pons Castro, Teresita de J. Méndez Sánchez, Mirta Silveira Simón

المصدر: Revista Cubana de Oftalmología, Vol 22, Iss 2, Pp 151-158 (2009)

مصطلحات موضوعية: Síndrome de Weill Marchesani, síndrome de Weill Marchesani, anomalías múltiples, sistémicas y oftalmológicas, Weill Marchesani syndrome, Weil Marchesani syndrome, multiple anomalies, systemic and ophthalmologic anomalies, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0864-21762009000200016; https://doaj.org/toc/0864-2176; https://doaj.org/toc/1561-3070

URL الوصول: https://doaj.org/article/8c69388ed50d496aa2209c2f1e615912

المؤلفون: Lipošćak, Katja

المساهمون: Pereza, Nina

مصطلحات موضوعية: BIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti. Genetika, genomika i proteomika čovjeka, BIOMEDICINE AND HEALTHCARE. Basic Medical Sciences. Human Genetics, Genomics and Proteomics, rekurentni mikrodelecijski sindromi, delecija kromosoma, varijacija broja kopija, intelektualno zaostajanje, prirođene anomalije, recurrent microdeletion syndromes, chromosome deletion, copy number variations, intellectual disabilities, multiple anomalies

وصف الملف: application/pdf

Relation: https://www.unirepository.svkri.uniri.hr/islandora/object/medri:6520; https://urn.nsk.hr/urn:nbn:hr:184:032342; https://www.unirepository.svkri.uniri.hr/islandora/object/medri:6520/datastream/PDF

الاتاحة: https://www.unirepository.svkri.uniri.hr/islandora/object/medri:6520
https://urn.nsk.hr/urn:nbn:hr:184:032342
https://www.unirepository.svkri.uniri.hr/islandora/object/medri:6520/datastream/PDF

المؤلفون: Haneen Alshukairi

المصدر: International Journal of Clinical Pediatric Dentistry

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Periodontics, Orthodontics, Case Report, Oral Surgery, Congenitally missing, Multiple anomalies, Peg lateral

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7fd33b95a39944734f7f01775cf5083
http://europepmc.org/articles/PMC8783225

المؤلفون: Bilal Mirza, Afzal Sheikh

المصدر: Journal of Neonatal Surgery, Vol 1, Iss 2, Pp 23-23 (2012)

مصطلحات موضوعية: duodenal atresia, multiple anomalies, Down syndrome, malrotation, annular pancreas, Pediatrics, RJ1-570, Surgery, RD1-811

Relation: http://jneonatalsurg.com/documents/vol-1/pdf/jns-1-36.pdf; https://doaj.org/toc/2226-0439; https://doaj.org/article/381ceabe6b1949659448cc7f483a2767

الاتاحة: https://doaj.org/article/381ceabe6b1949659448cc7f483a2767

المؤلفون: Celina Ann M. Tobias, Teresa Luisa Gloria-Cruz, Charlotte M. Chiong

المصدر: Philippine Journal of Otolaryngology Head and Neck Surgery, Vol 26, Iss 1 (2011)

مصطلحات موضوعية: Kabuki syndrome, Niikawa-Kuroki syndrome, hearing loss, multiple anomalies, Otorhinolaryngology, RF1-547

وصف الملف: electronic resource

Relation: https://pjohns.pso-hns.org/index.php/pjohns/article/view/597; https://doaj.org/toc/1908-4889; https://doaj.org/toc/2094-1501

URL الوصول: https://doaj.org/article/6de31ef6c6cd471d947382872c2da5a3

المؤلفون: Lucy Pons Castro, Teresita de J. Méndez Sánchez, Rosa Maria Naranjo, Alejandro Arias Díaz, Mavys Soto García, Mirta Silveira Simón

المصدر: Revista Cubana de Oftalmología, Vol 22, Iss 1, p 0 (2009)

مصطلحات موضوعية: Síndrome de Noonan, genética, anomalías múltiples, manifestaciones oculares, Noonan's syndrome, genetics, multiple anomalies, ocular manifestations, Ophthalmology, RE1-994

Relation: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0864-21762009000100013; https://doaj.org/toc/0864-2176; https://doaj.org/toc/1561-3070; https://doaj.org/article/d2d394a441eb449fb9f744e210d8620d

الاتاحة: https://doaj.org/article/d2d394a441eb449fb9f744e210d8620d

المؤلفون: Martínez Caballero, Dr. Juan, Martínez Velázquez, Dra. Mireya, Hernández Borges, Dr. Miguel Angel, Turcás Alcolea, Dr. Gervasio, Martínez Martínez, Dr. Juan Carlos

المصدر: Revista Información Científica; Vol. 51, No. 3 (2006) ; 1028-9933

مصطلحات موضوعية: recién nacido, atresia esofágica, anomalías múltiples, fístula traqueoesofágica, enfermedades del recto, enfermedades fetales, newborn, esophageal atresia, multiple anomalies, tracheoesophageal fistula, diseases of the rectum, fetal diseases

وصف الملف: application/pdf

Relation: https://revinfcientifica.sld.cu/index.php/ric/article/view/1458/2800; https://revinfcientifica.sld.cu/index.php/ric/article/view/1458

الاتاحة: https://revinfcientifica.sld.cu/index.php/ric/article/view/1458

المؤلفون: Donna M. Martin, Conny M. A. van Ravenswaaij-Arts

المساهمون: Clinical Cognitive Neuropsychiatry Research Program (CCNP)

المصدر: American Journal of Medical Genetics. Part C-Seminars in Medical Genetics, 175(4), 397-406. Wiley

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, CHD7 DEFICIENT MICE, Physiology, Multiple congenital anomaly, HEART-DISEASE, Article, MULTIPLE ANOMALIES, Translational Research, Biomedical, 03 medical and health sciences, CHARGE syndrome, Genetics, medicine, Prevalence, Animals, Humans, NEURAL STEM-CELL, Intensive care medicine, CHOANAL ATRESIA, Genetics (clinical), Organ system, GENE-EXPRESSION, business.industry, Research, INNER-EAR, Causative gene, MOUSE MODEL, DEFECTS, medicine.disease, HIGHLY MUTABLE LOCUS, 030104 developmental biology, Phenotype, Etiology, Disease Progression, Medical genetics, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b4e12546ca8242e92957074c3e4bb47
https://hdl.handle.net/11370/ed06bd0a-ab58-4f15-926c-ea4ff0136dd8