Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Report
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14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephalyPiccione, Maria ; Serra, Gregorio ; Consiglio, Valeria ; Di Fiore, Antonella ; Cavani, Simona ; Grasso, Marina ; Malacarne, Michela ; Pierluigi, Mauro ; Viaggi, Chiara ; Corsello, GiovanniAmerican Journal of Medical Genetics Part A, 2012, Vol.158A (6), p.1427-1433Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
2 |
Material Type: Report
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17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disabilityCoutton, Charles ; Devillard, Francoise ; Vieville, Gaëlle ; Amblard, Florence ; Lopez, Gipsy ; Jouk, Pierre-Simon ; Satre, VéroniqueAmerican Journal of Medical Genetics Part A, 2012, Vol.158A (10), p.2564-2570Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
3 |
Material Type: Report
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3-D imaging in post-traumatic malformation and eruptive disturbance in permanent incisors: a case reportSahai, Sharad ; Kaveriappa, Sushma ; Arora, Honey ; Aggarwal, BharatDental Traumatology, 2011, Vol.27 (6), p.473-477Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
4 |
Material Type: Report
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3. Specific food additivesWHO Technical Report Series, 2016 (1000), p.13World Health OrganizationTexto completo disponível |
5 |
Material Type: Report
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3. Specific food additivesWHO Technical Report Series, 2016 (1000), p.13World Health OrganizationTexto completo disponível |
6 |
Material Type: Report
|
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3. Specific food additivesWHO Technical Report Series, 2016 (1000), p.13World Health OrganizationTexto completo disponível |
7 |
Material Type: Report
|
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A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemiaYoshida, Rie ; Miyata, Masafumi ; Nagai, Toshiro ; Yamazaki, Toshio ; Ogata, TsutomuAmerican Journal of Medical Genetics Part A, 2004, Vol.128A (1), p.63-66Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
8 |
Material Type: Report
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A 56 Year-Old Female with Congenital Hepatic Fibrosis Diagnosed by LaparoscopySHIOMI, Susumu ; SASAKI, Nohumitsu ; KADOYA, Hirokazu ; LEE, Chulyoo ; ENOMOTO, Masaru ; TATSUMI, Nohuyuki ; MORIKAWA, Hiroyasu ; OGAMI, Masayuki ; MASUICHI, Hideo ; NAKATANI, Kazuki ; TAMORI, Akihiro ; HABU, Daiki ; SAKAGUCHI, Hiroki ; NISHIGUCHI, Shuhei ; SEKI, Shuichi ; KUROKI, TetsuoDigestive Endoscopy, 1999, Vol.11 (2), p.174-178Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
9 |
Material Type: Report
|
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A 76-year-old woman presenting with adult-onset, slowly progressive cerebellar symptomsTakahashi, Hitoshi ; Hayashi, Shintaro ; Sato, ToshiyaNeuropathology, 2002, Vol.22 (4), p.360-361Melbourne, Australia: Blackwell Science PtyTexto completo disponível |
10 |
Material Type: Report
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AA-type amyloidosis in association with non-Hodgkin's lymphoma following CMV viremia: Autopsy caseTajima, Shogo ; Ushijima, Tomonori ; Matuya, Shoji ; Horiuchi, HajimePathology International, 2010, Vol.60 (3), p.222-227Melbourne, Australia: Blackwell Publishing AsiaTexto completo disponível |