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1 |
Material Type: Artículo
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18q‐ syndrome and ectodermal dysplasia syndrome: Description of a child and his familyZannolli, R. ; Pierluigi, M. ; Pucci, L. ; Lagrasta, N. ; Gasparre, O. ; Matera, M.R. ; Di Bartolo, R.M. ; Mazzei, M.A. ; Sacco, P. ; Miracco, C. ; de Santi, M.M. ; Aitiani, P. ; Cavani, S. ; Pellegrini, L. ; Fimiani, M. ; Alessandrini, C. ; Galluzzi, P. ; Livi, W. ; Gonnelli, S. ; Terrosi‐Vagnoli, P. ; Zappella, M. ; Morgese, G.American journal of medical genetics. Part A, 2003-01, Vol.116A (2), p.192-199 [Revista revisada por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponible |
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2 |
Material Type: Artículo
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2b or Not 2b: How Opposing FGF Receptor Splice Variants Are Blocking Progress in Precision OncologyEpstein, Richard J. ; Tian, Li Jun ; Gu, Yan Fei Singh, Chandra ; Chandra SinghJournal of oncology, 2021, Vol.2021, p.9955456-16 [Revista revisada por pares]Egypt: HindawiTexto completo disponible |
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3 |
Material Type: Artículo
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3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosisLeupold, D ; Bojasch, M ; Jakobs, CEuropean journal of pediatrics, 1982-02, Vol.138 (1), p.73-76 [Revista revisada por pares]GermanyTexto completo disponible |
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4 |
Material Type: Artículo
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3D assessment of intervertebral disc degeneration in zebrafish identifies changes in bone density that prime disc diseaseKague, Erika ; Turci, Francesco ; Newman, Elis ; Yang, Yushi ; Brown, Kate Robson ; Aglan, Mona S ; Otaify, Ghada A ; Temtamy, Samia A ; Ruiz-Perez, Victor L ; Cross, Stephen ; Royall, C Patrick ; Witten, P Eckhard ; Hammond, Chrissy LBone research, 2021-08, Vol.9 (1), p.39-39 [Revista revisada por pares]China: Springer Nature B.VTexto completo disponible |
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5 |
Material Type: Artículo
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A 12 Mb deletion of 6p24.1 → pter in an 18-gestational-week fetus with orofacial clefting, the Dandy–Walker malformation and bilateral multicystic kidneysChen, Chih-Ping ; Tzen, Chin-Yuan ; Chern, Schu-Rern ; Tsai, Fuu-Jen ; Hsu, Chin-Yuan ; Lee, Chen-Chi ; Lee, Meng-Shan ; Pan, Chen-Wen ; Wang, WayseenEuropean journal of medical genetics, 2009-01, Vol.52 (1), p.59-61 [Revista revisada por pares]Amsterdam: Elsevier Masson SASTexto completo disponible |
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6 |
Material Type: Artículo
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A 2.5-Mb physical map within 3p21.1 spans the breakpoint associated with greig cephalopolysyndactyly syndromeGemmill, Robert M. ; Varella-Garcia, Marileila ; Smith, David I. ; Erickson, Paul ; Golembieski, William ; Miller, York ; Coyle-Morris, Jane ; Tommerup, Neils ; Drabkin, Harry A.Genomics (San Diego, Calif.), 1991-09, Vol.11 (1), p.93-102 [Revista revisada por pares]San Diego, CA: Elsevier IncTexto completo disponible |
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7 |
Material Type: Artículo
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A 6-Year Experience of 100 Cases of Pediatric Bony Craniovertebral Junction Abnormalities: Treatment and OutcomesYerramneni, Vamsi Krishna ; Chandra, P. Sarat ; Kale, Shashank S. ; Lythalling, Rajender K. ; Mahapatra, Ashok KumarPediatric neurosurgery, 2011-09, Vol.47 (1), p.45-50 [Revista revisada por pares]Basel, Switzerland: S. Karger AGTexto completo disponible |
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8 |
Material Type: Artículo
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Aberrant apoptosis in the neurological mutant Flathead is associated with defective cytokinesis of neural progenitor cellsMitchell, Bartley D ; Gibbons, Barbara ; Allen, Lydia R ; Stella, Jennifer ; D’Mello, Santosh RBrain research. Developmental brain research, 2001-09, Vol.130 (1), p.53-63 [Revista revisada por pares]Netherlands: Elsevier B.VTexto completo disponible |
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9 |
Material Type: Artículo
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Aberrant craniopharyngeal structures within the neurohypophysis of ratsSchaetti, Philippe ; Argentino-Storino, Alberta ; Heinrichs, Martin ; Mirea, Dumitru ; Popp, Andreas ; Karbe, EberhardExperimental and toxicologic pathology : official journal of the Gesellschaft für Toxikologische Pathologie, 1995, Vol.47 (2), p.129-137 [Revista revisada por pares]Jena: Elsevier GmbHTexto completo disponible |
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10 |
Material Type: Artículo
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Abnormal Facies, Myopia, and Short StatureKeith, C. G. ; Dobbs, R. H. ; Shaw, D. G. ; Cottrall, K.Archives of disease in childhood, 1972-10, Vol.47 (255), p.787-793 [Revista revisada por pares]England: BMJ Publishing Group Ltd and Royal College of Paediatrics and Child HealthTexto completo disponible |