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Refinado por: Base de dados/Biblioteca: Wiley-Blackwell Full Collection 2013 remover tipo de recurso: Reports remover
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Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10
Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10
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Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10

Gürbüz, Berrak Bilginer ; Gülbakan, Basri ; Özgül, Rıza Köksal ; Yalnızoğlu, Dilek ; Yılmaz, Didem Yücel ; Göçmen, Rahşan ; Koşukcu, Can ; Kandemir, Nurgün ; Acar, Neşe Vardar ; Salih, Bekir ; Dursun, Ali

American journal of medical genetics. Part A, 2024, p.e63645-e63645

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2
Association of an insertion mutation in PRRT2 with hereditary spastic paraplegia accompanied by polyneuropathy
Association of an insertion mutation in PRRT2 with hereditary spastic paraplegia accompanied by polyneuropathy
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Association of an insertion mutation in PRRT2 with hereditary spastic paraplegia accompanied by polyneuropathy

Wang, Zhaoyu ; Dong, Huijie ; Ji, Xiaofei ; Luan, Siyu ; Cao, Hua

Journal of clinical laboratory analysis, 2021, Vol.35 (6), p.e23772-e23772

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3
Liddle syndrome in a Turkish family with heterogeneous phenotypes
Liddle syndrome in a Turkish family with heterogeneous phenotypes
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Liddle syndrome in a Turkish family with heterogeneous phenotypes

Büyükkaragöz, Bahar ; Yilmaz, Aysun Caltik ; Karcaaltincaba, Deniz ; Ozdemir, Osman ; Ludwig, Michael

Pediatrics International, 2016, Vol.58 (8), p.801-804

Blackwell Publishing Ltd

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4
Development of echinocandin-resistant Candida albicans candidemia following brief prophylactic exposure to micafungin therapy
Development of echinocandin-resistant Candida albicans candidemia following brief prophylactic exposure to micafungin therapy
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Development of echinocandin-resistant Candida albicans candidemia following brief prophylactic exposure to micafungin therapy

Ruggero, M.A. ; Topal, J.E.

Transplant Infectious Disease, 2014, Vol.16 (3), p.469-472

Blackwell Publishing Ltd

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5
A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis
A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis
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A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis

Barbaro, Vanessa ; Nardiello, Paola ; Castaldo, Giuseppe ; Willoughby, Colin E. ; Ferrari, Stefano ; Ponzin, Diego ; Amato, Felice ; Bonifazi, Ernesto ; Parekh, Mohit ; Calistri, Arianna ; Parolin, Cristina ; Di Iorio, Enzo

American Journal of Medical Genetics Part A, 2012, Vol.158A (8), p.1957-1961

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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6
Herpes Simplex I virus impairs regenerative outcomes of periodontal regenerative therapy in intrabony defects. A pilot study
Herpes Simplex I virus impairs regenerative outcomes of periodontal regenerative therapy in intrabony defects. A pilot study
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Herpes Simplex I virus impairs regenerative outcomes of periodontal regenerative therapy in intrabony defects. A pilot study

Bertoldi, Carlo ; Pellacani, Chiara ; Lalla, Michele ; Consolo, Ugo ; Pinti, Marcello ; Cortellini, Pierpaolo ; Cossarizza, Andrea

Journal of Clinical Periodontology, 2012, Vol.39 (4), p.385-392

Blackwell Publishing Ltd

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7
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism
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Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism

Pilozzi-Edmonds, Laura ; Maher, Thomas A. ; Basran, Raveen K. ; Milunsky, Aubrey ; Al-Thihli, Khalid ; Braverman, Nancy E. ; Alfares, Ahmed

American Journal of Medical Genetics Part A, 2011, Vol.155A (8), p.1987-1990

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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8
Embryonal tumor with abundant neuropil and true rosettes: Morphological, immunohistochemical, ultrastructural and molecular study of a case showing features of medulloepithelioma and areas of mesenchymal and epithelial differentiation
Embryonal tumor with abundant neuropil and true rosettes: Morphological, immunohistochemical, ultrastructural and molecular study of a case showing features of medulloepithelioma and areas of mesenchymal and epithelial differentiation
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Embryonal tumor with abundant neuropil and true rosettes: Morphological, immunohistochemical, ultrastructural and molecular study of a case showing features of medulloepithelioma and areas of mesenchymal and epithelial differentiation

Buccoliero, Anna Maria ; Castiglione, Francesca ; Degl'Innocenti, Duccio Rossi ; Franchi, Alessandro ; Paglierani, Milena ; Sanzo, Massimiliano ; Cetica, Valentina ; Giunti, Laura ; Sardi, Iacopo ; Genitori, Lorenzo ; Taddei, Gian Luigi

Neuropathology, 2010, Vol.30 (1), p.84-91

Melbourne, Australia: Blackwell Publishing Asia

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9
Prolidase deficiency: The use of topical proline for treatment of leg ulcers
Prolidase deficiency: The use of topical proline for treatment of leg ulcers
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Prolidase deficiency: The use of topical proline for treatment of leg ulcers

Dunn, Rebecca ; Dolianitis, Con

Australasian Journal of Dermatology, 2008, Vol.49 (4), p.237-238

Melbourne, Australia: Blackwell Publishing Asia

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10
Acute myeloid leukaemia presenting as galactorrhoea
Acute myeloid leukaemia presenting as galactorrhoea
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Acute myeloid leukaemia presenting as galactorrhoea

MUSLAHI, M. A. ; ROSS, D. M.

International Journal of Laboratory Hematology, 2007, Vol.29 (5), p.390-392

Oxford, UK: Blackwell Publishing Ltd

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