المؤلفون: Bibekananda Mukherjee, Barnali Das, Joydeep Das

المصدر: Journal of Clinical and Diagnostic Research, Vol 17, Iss 5, Pp SR01-SR05 (2023)

مصطلحات موضوعية: ash-leaf macule, café-au-lait spot, haemangioma, neurocutaneous markers, telangiectasia, Medicine

العلاقة: https://www.jcdr.net/articles/PDF/17868/62396_CETest[Ra1]_F(IS)_PF1(DA_SS)_PN(KM).pdf; https://doaj.org/toc/2249-782XTest; https://doaj.org/toc/0973-709XTest; https://doaj.org/article/1584f9d21f2d427aa3f7fe5dd94fbec7Test

الإتاحة: https://doi.org/10.7860/JCDR/2023/62396.17868Test
https://doaj.org/article/1584f9d21f2d427aa3f7fe5dd94fbec7Test

المؤلفون: Mallone, Fabiana, Lucchino, Luca, Giustini, Sandra, Lambiase, Alessandro, Moramarco, Antonietta

المساهمون: Mallone, Fabiana, Lucchino, Luca, Giustini, Sandra, Lambiase, Alessandro, Moramarco, Antonietta

مصطلحات موضوعية: choroidal abnormalities (CAs), diagnostic criteria, hyperpigmented spots (HSs), neurofibromatosis type 1 (NF1), retinal microvascular abnormalities (RVAs), cafe-au-lait spot, human, retina, neurofibroma, neurofibromatosis 1, optic nerve glioma

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35698197; info:eu-repo/semantics/altIdentifier/wos/WOS:000810676900003; volume:17; issue:1; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11573/1649119Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85131795050

الإتاحة: https://doi.org/10.1186/s13023-022-02369-8Test
http://hdl.handle.net/11573/1649119Test

المؤلفون: Sá, Liliana, Pena, Teresa, Almeida, Sónia, Rangel, Maria Adriana, Campos, Rosa Arménia, Leite, Ana Luísa

المصدر: NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL; Vol. 31 No. 2 (2022); 178-180 ; NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL; Vol. 31 N.º 2 (2022); 178-180 ; 2183-9417

مصطلحات موضوعية: café-au-lait spot, delayed puberty, LEOPARD syndrome, multiple lentigines, Noonan syndrome, short stature, baixa estatura, lentigos múltiplos, mancha café-com-leite, puberdade tardia, síndrome de LEOPARD, síndrome de Noonan

وصف الملف: application/pdf

العلاقة: https://revistas.rcaap.pt/nascercrescer/article/view/23217/19870Test; https://revistas.rcaap.pt/nascercrescer/article/view/23217Test

الإتاحة: https://revistas.rcaap.pt/nascercrescer/article/view/23217Test

المؤلفون: Vannelli S., Buganza R., Runfola F., Mussinatto I., Andreacchio A., De Sanctis L.

المساهمون: Vannelli S., Buganza R., Runfola F., Mussinatto I., Andreacchio A., De Sanctis L.

مصطلحات موضوعية: café-au-lait macule, Giant cell granulomas of the jaw, Jaffe-Campanacci syndrome, Neurofibromatosis type 1, Non-ossifying fibroma, Bone Neoplasm, Cafe-au-Lait Spot, Child, Diagnosis, Differential, Fibroma, Granuloma, Giant Cell, Human, Male, Neurofibromatosis 1, Syndrome, Genes, Mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32393377; info:eu-repo/semantics/altIdentifier/wos/WOS:000534285600001; volume:46; issue:1; firstpage:58; lastpage:63; numberofpages:6; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/2318/1798041Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084615423

الإتاحة: https://doi.org/10.1186/s13052-020-0813-9Test
http://hdl.handle.net/2318/1798041Test

المؤلفون: Bottega R., Napolitano L. M. R., Carbone A., Cappelli E., Corsolini F., Onesti S., Savoia A., Gasparini P., Faletra F.

المساهمون: Bottega, R., Napolitano, L. M. R., Carbone, A., Cappelli, E., Corsolini, F., Onesti, S., Savoia, A., Gasparini, P., Faletra, F.

مصطلحات موضوعية: DDX11, mutation, Warsaw Breakage Syndrome, Abnormalities, Multiple, Cafe-au-Lait Spot, Cell Line, Cells, Cultured, Child, Preschool, DEAD-box RNA Helicase, DNA Helicase, Female, Hearing Loss, Sensorineural, Human, Syndrome, Phenotype

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30924321; info:eu-repo/semantics/altIdentifier/wos/WOS:000468084200033; volume:7; issue:5; firstpage:"-"; lastpage:"-"; numberofpages:6; journal:MOLECULAR GENETICS & GENOMIC MEDICINE; http://hdl.handle.net/11368/2957690Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85065414647

الإتاحة: https://doi.org/10.1002/mgg3.639Test
http://hdl.handle.net/11368/2957690Test

المؤلفون: Guerrini-Rousseau, Léa, Varlet, Pascale, Colas, Chrystelle, Andreiuolo, Felipe, Bourdeaut, Franck, Dahan, Karin, Devalck, Christine, Faure-Conter, Cécile, Genuardi, Maurizio, Goldberg, Yael, Kuhlen, Michaela, Moalla, Salma, Opocher, Enrico, Perez-Alonso, Vanessa, Sehested, Astrid, Slavc, Irene, Unger, Sheila, Wimmer, Katharina, Grill, Jacques, Brugières, Laurence

المصدر: Neuro-Oncology Advances, 1 (1

مصطلحات موضوعية: Généralités, brain tumor, café-au-lait spot, childhood cancer, constitutional mismatch repair deficiency, high-grade glioma, MMR biallelic germline mutation, predisposition

وصف الملف: 1 full-text file(s): application/pdf

العلاقة: uri/info:doi/10.1093/noajnl/vdz033; uri/info:scp/85096295526; https://dipot.ulb.ac.be/dspace/bitstream/2013/341517/1/doi_325161.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/341517Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/341517Test

المؤلفون: Mayank Jain, Saloni Deol Jain, Priti Gupta

المصدر: International Healthcare Research Journal; Vol 2 No 4 (2018): Volume 2, Issue 4 (July 2018); 92-97 ; 2456-8090

مصطلحات موضوعية: Neurofibroma, Cafe` -au-lait spot, Neurofibromatosis

وصف الملف: application/pdf

العلاقة: https://ihrjournal.com/ihrj/article/view/126/114Test; https://ihrjournal.com/ihrj/article/view/126Test

الإتاحة: https://doi.org/10.26440/IHRJ/02_04/183Test
https://ihrjournal.com/ihrj/article/view/126Test

المؤلفون: Rinaldi, B, Vaisfeld, A, Amarri, S, Baldo, C, Gobbi, G, Magini, P, Melli, E, Neri, G, Novara, F, Pippucci, T, Rizzi, R, Soresina, A, Zuffardi, O, Crimi, M., ZAMPINI, LAURA

المساهمون: Rinaldi, B, Vaisfeld, A, Amarri, S, Baldo, C, Gobbi, G, Magini, P, Melli, E, Neri, G, Novara, F, Pippucci, T, Rizzi, R, Soresina, A, Zampini, L, Zuffardi, O, Crimi, M

مصطلحات موضوعية: Abnormality of retinal pigmentation, Abnormality of skin pigmentation, Abnormality of the corpus callosum, Abnormality of the eye, Abnormality of the face, Abnormality of the immune system, Abnormality of the retina, Abnormality of vision, Absent speech, Aggressive behavior, Anorexia, Arthriti, Aspiration, Astigmatism, Autism, Autistic behavior, Autoimmunity, Behavioral abnormality, Best practice, Blepharophimosi, Brain atrophy, Cafe-au-lait spot, Caregiver, Cataract, Celiac disease, Coloboma, Constipation, Dehydration, Diaphragmatic weakne, Downslanted palpebral fissure

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28399932; info:eu-repo/semantics/altIdentifier/wos/WOS:000398962300003; volume:12; issue:1; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/10281/149247Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018464372

الإتاحة: https://doi.org/10.1186/s13023-017-0606-4Test
http://hdl.handle.net/10281/149247Test

المؤلفون: Bazzocchi, Alberto, Campanacci, Laura, Aparisi Gómez, Maria Pilar, Guglielmi, Giuseppe

المساهمون: Bazzocchi, Alberto, Campanacci, Laura, Aparisi Gómez, Maria Pilar, Guglielmi, Giuseppe

مصطلحات موضوعية: Cafe-au-Lait Spot, Human, Radiography, Fibroma, Radiology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35609581; volume:26; issue:2; firstpage:197; lastpage:200; numberofpages:4; journal:SEMINARS IN MUSCULOSKELETAL RADIOLOGY; http://hdl.handle.net/11369/419892Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85130674719

الإتاحة: https://doi.org/10.1055/s-0042-1742706Test
http://hdl.handle.net/11369/419892Test

المؤلفون: Jyotiranjan Mallick, Sucheta Parija, Bijnya Panda, Susanta Pujahari, Satyaswarup Jena

المصدر: Journal of Clinical and Diagnostic Research, Vol 10, Iss 6, Pp ND01-ND03 (2016)

مصطلحات موضوعية: café au lait spot, lisch nodule, phakomatosis, plexiform neurofibroma, Medicine

العلاقة: https://jcdr.net/articles/PDF/7899/16332_CETest(Ra1)F(GH)_PF1(VIAK)_PFA(AK)_PF2(PAG).pdf; https://doaj.org/toc/2249-782XTest; https://doaj.org/toc/0973-709XTest; https://doaj.org/article/b85a2024113844659fa5bea4f97f7b85Test

الإتاحة: https://doi.org/10.7860/JCDR/2016/16332.7899Test
https://doaj.org/article/b85a2024113844659fa5bea4f97f7b85Test