المؤلفون: Kanai, Yu, Takahashi, Hironori, Hasegawa, Fuyuki, Hori, Asuka, Suzuki, Hisato, Takahashi, Shoko, Fukushima, Hiroko, Takada, Hidetoshi, Horie, Kenji, Ozawa, Katsunori, Furukawa, Rieko, Kosaki, Kenjiro, Hata, Kenichiro

المصدر: Am J Med Genet A ; ISSN:1552-4833 ; Volume:197 ; Issue:2

مصطلحات موضوعية: RECQL4, Baller–Gerold syndrome, Rothmund–Thomson syndrome, acrofacial dysostosis, autosomal recessive, prenatal diagnosis

Relation: https://doi.org/10.1002/ajmg.a.63884; https://pubmed.ncbi.nlm.nih.gov/39324487

الاتاحة: https://doi.org/10.1002/ajmg.a.63884
https://pubmed.ncbi.nlm.nih.gov/39324487

المؤلفون: Megan Schmit, Anja-Katrin Bielinsky

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 2; Pages: 911

مصطلحات موضوعية: Meier-Gorlin syndrome, natural killer cell deficiency, X-linked pigmentary reticulate disorder, Van Esch-O’Driscoll disease, IMAGe syndrome, FILS syndrome, Rothmund-Thomson syndrome, Baller-Gerold syndrome, RAPADILINO

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms22020911

الاتاحة: https://doi.org/10.3390/ijms22020911

المؤلفون: Elisa Adele Colombo, Hatice Mutlu-Albayrak, Yousef Shafeghati, Mine Balasar, Juliette Piard, Davide Gentilini, Anna Maria Di Blasio, Cristina Gervasini, Lionel Van Maldergem, Lidia Larizza

المصدر: Frontiers in Pediatrics, Vol 7 (2019)

مصطلحات موضوعية: Roberts syndrome, Baller-Gerold syndrome, RECQL4, ESCO2, patient management, genetic counseling, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fped.2019.00210/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/c206529938ff4048af77d1de55595256

المؤلفون: ELÇİOĞLU, HURİYE NURSEL

المساهمون: Colombo, Elisa A., Locatelli, Andrea, Cubells Sanchez, Laura, Romeo, Sara, Elcioglu, Nursel H., Maystadt, Isabelle, Esteve Martinez, Altea, Sironi, Alessandra, Fontana, Laura, Finelli, Palma, Gervasini, Cristina, Pecile, Vanna, Larizza, Lidia

مصطلحات موضوعية: Rothmund-Thomson syndrome, RECQL4, clinical expressivity, transcript analysis, osteosarcoma outcome, BALLER-GEROLD-SYNDROME, RECQL4 MUTATIONS, DAMAGE REPAIR, VARIANTS, OSTEOSARCOMA, HELICASE, DISEASES, LOCALIZATION, ASSOCIATION, PREDICTION

وصف الملف: application/pdf

Relation: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11424/242413; WOS:000434978700182

الاتاحة: https://hdl.handle.net/11424/242413
https://doi.org/10.3390/ijms19041103

المؤلفون: Jelica Vukicevic

مصطلحات موضوعية: poikiloderma, anal atresia, ultrasonography, Rothmund ?Thomson syndrome, pyloric stenosis, X?ray, glaucoma, kindler syndrome, baller?gerold syndrome, RECQL4, juvenile cataracts, photosensitivity, punctate keratoderma, esophageal dilatation, blood incompatibility

وصف الملف: application/pdf

Relation: http://medcraveonline.com/JDC/JDC-02-00058.pdf

الاتاحة: http://medcraveonline.com/JDC/JDC-02-00058.pdf

المؤلفون: Iype Mary, Henry P, Aravind C, Arun K

المصدر: Annals of Indian Academy of Neurology, Vol 11, Iss 1, Pp 52-55 (2008)

مصطلحات موضوعية: Adverse reactions-serious, Baller - Gerold syndrome, teratogenesis, valproic-acid, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2008;volume=11;issue=1;spage=52;epage=55;aulast=Iype; https://doaj.org/toc/0972-2327; https://doaj.org/toc/1998-3549

URL الوصول: https://doaj.org/article/4fad648328f446e1bd2dd18aa71a954a

المؤلفون: Ji Sook Kim

المصدر: Neonatal Medicine. 26:240-245

مصطلحات موضوعية: Genetics, business.industry, Mutation (genetic algorithm), Medicine, Baller–Gerold syndrome, Craniosynostoses, business, medicine.disease, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::171a875413170c5b72171058a48fca48
https://doi.org/10.5385/nm.2019.26.4.240

المؤلفون: Kılıç, B.Alper, Faivre, L., Aral, Bernard, Özsarı, Tamer, Özdemir, Özmert M.A., Gürses, Dolunay, Kılıç, Ä°lknur

مصطلحات موضوعية: case report, child, congenital heart malformation, craniofacial synostosis, echocardiography, echography, ectopic breast, Baller-Gerold syndrome, baller gerold syndrome, female, heart murmur, human, hypospadias, kidney malformation, male, Anticonvulsants, Craniosynostoses, Diagnosis, Differential, Absence/hypoplasia of thumb, Craniosynostosis, Maternal anti-epileptic drugs, Polymastia, RECQL4, Trigonocephaly, Valproate syndrome, amoxicillin, digoxin, diuretic agent, enalapril

Relation: Turkish Journal of Pediatrics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11499/6653; 51; 631; 636; WOS:000274692900020

الاتاحة: https://hdl.handle.net/11499/6653

المؤلفون: Jyotsna Murthy, Ramesh Babu, Padmasani Venkat Ramanan

المصدر: Indian Journal of Plastic Surgery, Vol 41, Iss 01, Pp 076-078 (2008)

مصطلحات موضوعية: Baller-Gerold syndrome, craniosynostosis, crossed ectopia, ectopic kidneys, microcephaly, radial agenesis, radial club hand, reflux, renal agenesis, vesico ureteric reflux, Surgery, RD1-811

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0970-0358; https://doaj.org/toc/1998-376X

URL الوصول: https://doaj.org/article/f379e930c50f4ebc9da48f1428de968d

المؤلفون: Murthy Jyotsna, Babu Ramesh, Ramanan Padmasani

المصدر: Indian Journal of Plastic Surgery, Vol 41, Iss 1, Pp 76-78 (2008)

مصطلحات موضوعية: Baller-Gerold syndrome, craniosynostosis, crossed ectopia, ectopic kidneys, microcephaly, radial agenesis, radial club hand, reflux, renal agenesis, vesico ureteric reflux, Surgery, RD1-811

وصف الملف: electronic resource

Relation: http://www.ijps.org/article.asp?issn=0970-0358;year=2008;volume=41;issue=1;spage=76;epage=78;aulast=Murthy; https://doaj.org/toc/0970-0358; https://doaj.org/toc/1998-376X

URL الوصول: https://doaj.org/article/0e3db4aa3ed640d2ab85fe4b15868adb

المؤلفون: Anja Katrin Bielinsky, Megan Schmit

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 911, p 911 (2021)
International Journal of Molecular Sciences

مصطلحات موضوعية: DNA Replication, Genome instability, X-linked pigmentary reticulate disorder, Review, RAPADILINO, Biology, Genomic Instability, Catalysis, Van Esch-O’Driscoll disease, Inorganic Chemistry, lcsh:Chemistry, Craniosynostoses, chemistry.chemical_compound, Neoplasms, medicine, Humans, Baller-Gerold syndrome, Physical and Theoretical Chemistry, Molecular Biology, Gene, Rothmund–Thomson syndrome, lcsh:QH301-705.5, Spectroscopy, Genetics, Rothmund-Thomson syndrome, RecQ Helicases, DNA synthesis, Point mutation, Organic Chemistry, DNA replication, General Medicine, Meier-Gorlin syndrome, medicine.disease, Computer Science Applications, IMAGe syndrome, Phenotype, chemistry, lcsh:Biology (General), lcsh:QD1-999, Mutation, Replisome, DNA, natural killer cell deficiency, FILS syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70c168be3e3b74971763fdb65376e84f
https://www.mdpi.com/1422-0067/22/2/911

المؤلفون: Kiyoko Sameshima, Osamu Ohara, Hirotsugu Oda, Michinori Funato, Hideo Kaneko, Toshiyuki Fukao, Hidenori Ohnishi, Rie Izumi

المصدر: Molecular Medicine Reports. 15:3222-3224

مصطلحات موضوعية: Male, musculoskeletal diseases, 0301 basic medicine, Heterozygote, Cancer Research, Pediatrics, medicine.medical_specialty, Pathology, RecQ helicase, DNA Mutational Analysis, Radial aplasia, Gene mutation, Biochemistry, Craniosynostosis, Craniosynostoses, 03 medical and health sciences, 0302 clinical medicine, Asian People, Japan, Surveys and Questionnaires, Genetics, medicine, Humans, Molecular Biology, Sequence Deletion, Flexion contracture, Base Sequence, RecQ Helicases, business.industry, Genetic disorder, Baller–Gerold syndrome, medicine.disease, Hypoplasia, Radius, Phenotype, 030104 developmental biology, Oncology, Child, Preschool, Leukocytes, Mononuclear, Molecular Medicine, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::083c413d2cf11af9729252b89e1b7d21
https://doi.org/10.3892/mmr.2017.6408

المؤلفون: Hideo Kaneko

المصدر: DNA Repair Disorders ISBN: 9789811067211

مصطلحات موضوعية: medicine.medical_specialty, Juvenile cataract, business.industry, Genetic disorder, Radial aplasia, Poikiloderma, Baller–Gerold syndrome, medicine.disease, Dermatology, medicine, Rapadilino syndrome, Skin cancer, business, Rothmund–Thomson syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::09714595c5cec9522b370d7e14b69097
https://doi.org/10.1007/978-981-10-6722-8_11

المؤلفون: Laura Cubells Sánchez, Laura Fontana, Sara G. Romeo, A. Sironi, Palma Finelli, Vanna Pecile, Lidia Larizza, Isabelle Maystadt, Altea Esteve Martínez, Andrea Locatelli, Cristina Gervasini, Nursel Elcioglu, Elisa Colombo

المساهمون: Colombo, Elisa A., Locatelli, Andrea, Cubells Sanchez, Laura, Romeo, Sara, Elcioglu, Nursel H., Maystadt, Isabelle, Esteve Martinez, Altea, Sironi, Alessandra, Fontana, Laura, Finelli, Palma, Gervasini, Cristina, Pecile, Vanna, Larizza, Lidia

المصدر: International Journal of Molecular Sciences, Vol 19, Iss 4, p 1103 (2018)
International Journal of Molecular Sciences
International Journal of Molecular Sciences; Volume 19; Issue 4; Pages: 1103

مصطلحات موضوعية: Male, 0301 basic medicine, PREDICTION, clinical expressivity, VARIANTS, 030105 genetics & heredity, Genome, lcsh:Chemistry, Medicine, DAMAGE REPAIR, Child, Rothmund–Thomson syndrome, lcsh:QH301-705.5, Spectroscopy, Genetics, Rothmund-Thomson syndrome, RecQ Helicases, Homozygote, LOCALIZATION, ASSOCIATION, General Medicine, Phenotype, Pedigree, Computer Science Applications, DISEASES, Female, Allelic heterogeneity, Adult, osteosarcoma outcome, RECQL4, transcript analysis, Adolescent, Article, Catalysis, Inorganic Chemistry, 03 medical and health sciences, Cell Line, Tumor, BALLER-GEROLD-SYNDROME, Humans, RECQL4 MUTATIONS, Genetic variability, HELICASE, Physical and Theoretical Chemistry, Molecular Biology, Gene, business.industry, Organic Chemistry, Cancer, medicine.disease, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, OSTEOSARCOMA, Mutation, business, Literature survey

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26cccec40a9888274fd0d703ed99e3be
http://www.mdpi.com/1422-0067/19/4/1103

المؤلفون: Nadège Gigot, Valeria Capra, Annick Toutain, Alice Goldenberg, Geneviève Pierquin, Nicole Philip, Odile Boute, S. Gauthier, Mariam Tajir, Yves Sznajer, Muriel Holder-Espinasse, Loreto Martorell, Laurence Faivre, J. Piard, Jean-Benoît Courcet, Christine Francannet, Cédric Baumann, Philippe Parent, Valérie Cormier-Daire, Michael Wright, N. Didonato, Marie-Pierre Cordier, David Geneviève, Didier Bessis, Ana Berta Sousa, Laurent Pasquier, Angela F. Brady, F. Boralevi, Siham Chafai Elalaoui, André Mégarbané, Bernard Aral, Edward Blair, Christine Bodemer, Eve Puzenat, B. Demeer, M. Tardieu, Corinne Collet, V. Barlogis, C. Thauvin-Robinet, Marlène Rio, Christine Coubes, Pierre Vabres, Geneviève Baujat, J. Franques, Patrick Callier, Jean-Baptiste Rivière, María Antonia González-Enseñat, Julien Thevenon, Olga Domnica Moldovan, A. Rodríguez

المصدر: Clinical Genetics. 87:244-251

مصطلحات موضوعية: Genetics, medicine.medical_specialty, business.industry, Poikiloderma, Consanguinity, Baller–Gerold syndrome, medicine.disease, Dermatology, 3. Good health, Hereditary sclerosing poikiloderma, Genotype, medicine, business, Rothmund–Thomson syndrome, Genetics (clinical), Comparative genomic hybridization, Porokeratosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3d6b788c4e0d8e9651ba6f5fc956ad7e
https://doi.org/10.1111/cge.12361

المؤلفون: CS Aravind, Mary lype, K Arun, PY Henry

المصدر: Annals of Indian Academy of Neurology

مصطلحات موضوعية: Pregnancy, Unilateral radial aplasia, Valproic Acid, medicine.medical_specialty, Fetus, Pediatrics, business.industry, Case Report, Baller–Gerold syndrome, Consanguinity, valproic-acid, medicine.disease, Adverse reactions-serious, Baller - Gerold syndrome, Surgery, Autosomal recessive trait, In utero, medicine, teratogenesis, Neurology (clinical), business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25268524368e47cdc0b4f99f22aab276
http://europepmc.org/articles/PMC2781148

المؤلفون: Aleksandra Zver, Maruša Debeljak, Janez Jazbec

المصدر: American Journal of Medical Genetics Part A. :755-759

مصطلحات موضوعية: DNA, Complementary, DNA Mutational Analysis, Molecular Sequence Data, Limb Deformities, Congenital, Genes, Recessive, Lymphoma, T-Cell, Compound heterozygosity, Craniosynostosis, Craniosynostoses, Genetics, medicine, Humans, Rapadilino syndrome, Allele, Child, Frameshift Mutation, Rothmund–Thomson syndrome, Alleles, Genetics (clinical), Sequence Deletion, Base Sequence, RecQ Helicases, business.industry, Twist-Related Protein 1, Rothmund-Thomson Syndrome, Nuclear Proteins, Cancer, Syndrome, Baller–Gerold syndrome, medicine.disease, Lymphoma, Phenotype, Codon, Nonsense, Immunology, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f5ff8e0213b2c14d476518355796b45
https://doi.org/10.1002/ajmg.a.32736

المؤلفون: Giuseppe Di Cara, F. Signorile, Gabriella Restagno, D. Franceschini, Piergiorgio Franceschini, Andrea Guala, Lorenzo Genitori, D. Licata

المصدر: American Journal of Medical Genetics. 80:303-308

مصطلحات موضوعية: Adult, Male, metacarpophalangeal profile Baller Gerold syndrome, Monozygotic twin, Craniosynostosis, Fingers, Craniosynostoses, medicine, Humans, Genetics (clinical), Coronal craniosynostosis, business.industry, Infant, Newborn, Dysostosis, Syndrome, Twins, Monozygotic, Baller–Gerold syndrome, Aplasia, Anatomy, medicine.disease, Hypoplasia, Radius, medicine.anatomical_structure, Upper limb, Female, Metacarpus, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2cdf1e930dd400fc2b21f4397509735
https://doi.org/10.1002/(sici)1096-8628(19981204)80:4<303::aid-ajmg1>3.0.co;2-s

المؤلفون: K. Anyane‐Yeboa, L. Gunning, A. D. Bloom

المصدر: Europe PubMed Central

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Craniosynostosis-radial aplasia syndrome, Radial aplasia, Consanguinity, Craniosynostoses, Bilateral radial aplasia, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Genetics (clinical), Renal ectopia, business.industry, Skull, Infant, Newborn, Syndrome, Baller–Gerold syndrome, Anatomy, medicine.disease, Radiography, Radius, Coronal plane, Female, business, Imperforate anus

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22f1123ca29fe697566eaf0b2c9ceb49
https://doi.org/10.1111/j.1399-0004.1980.tb00126.x

المؤلفون: Sun Jl, Cao Dh, Bai Xz, Qiu Gb, Liu Dn, Mu K, Ning Zhang, Ma Xw

المصدر: Genetics and molecular research : GMR. 14(2)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Heterozygote, Prenatal diagnosis, Compound heterozygosity, medicine.disease_cause, Genetic analysis, Craniosynostoses, Pregnancy, Prenatal Diagnosis, Genetics, medicine, Humans, Molecular Biology, Fetus, Mutation, Comparative Genomic Hybridization, RecQ Helicases, Obstetrics, business.industry, General Medicine, Baller–Gerold syndrome, medicine.disease, Radius, Karyotyping, Female, business, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9649107d1bd2156170e17ab11616b701
https://pubmed.ncbi.nlm.nih.gov/25966250