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Refinado por: Biblioteca: FM - Fac. Medicina remover
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1
Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations
Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations
Material Type:
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Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations

U. S Melo F Freua; D. S Lynch; B. D Ripa; R. B Tenorio; J. A. M Saute; F. de Souza Leite; J Kitajima; H Houlden; Mayana Zatz; F Kok

Clinical Genetics Hoboken v. 94, p. 482-483, 2018

Hoboken 2018

Localização: FM - Fac. Medicina    (OPI 29487 2018 )(Acessar)

2
PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy
PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy
Material Type:
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PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy

Anderson Rodrigues Brandao de Paiva David S Lynch; Uira Souto Melo; Leandro Tavares Lucato; Fernando Freua; Bruno Della Ripa de Assis; Isabella Barcelos; Clarice Listik; Diego de Castro dos Santos; Fernando Kok

Neurology-genetics v. 5, n. 1, article ID UNSP e306, 4p, 2019

Philadelphia 2019

Acesso online. A biblioteca também possui exemplares impressos.

3
Extreme Clinical Variability Among Carriers of Pathogenic Variant in SSBP1 [Carta]
Extreme Clinical Variability Among Carriers of Pathogenic Variant in SSBP1 [Carta]
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Extreme Clinical Variability Among Carriers of Pathogenic Variant in SSBP1 [Carta]

Eduardo Sousa de Melo Anderson Rodrigues Brandao de Paiva; Antonio Duarte de Amorim Jr.; Jose Ronaldo Lima de Carvalho Jr.; Marcos Eugenio Ramalho Bezerra; Vanessa van Der Linden; David S Lynch; Fernando Kok

Movement disorders v. 37, n. 4, p. 879-881, 2022

Hoboken 2022

Acesso online. A biblioteca também possui exemplares impressos.

4
An Official ATS/ERS/JRS/ALAT Statement: Idiopathic Pulmonary Fibrosis Evidence-based Guidelines for Diagnosis and Management
An Official ATS/ERS/JRS/ALAT Statement: Idiopathic Pulmonary Fibrosis Evidence-based Guidelines for Diagnosis and Management
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Artigo 		Adicionar ao Meu Espaço

An Official ATS/ERS/JRS/ALAT Statement: Idiopathic Pulmonary Fibrosis Evidence-based Guidelines for Diagnosis and Management

Ganesh Raghu Harold R Collard; Jim J Egan; Fernando J Martinez; Juergen Behr; Kevin K Brown; Thomas V Colby; Jean-Francois Cordier; Kevin R Flaherty; Joseph A Lasky; David A Lynch; Jay H Ryu; Jeffrey J Swigris; Athol U Wells; Julio Ancochea; Demosthenes Bouros; Carlos Carvalho; Ulrich Costabel; Masahito Ebina; David M Hansell; Takeshi Johkoh; Dong Soon Kim; Jr., Talmadge E King; Yasuhiro Kondoh; Jeffrey Myers; Nestor L Müller; Andrew G Nicholson; Luca Richeldi; Moisés Selman; Rosalind F Dudden; Barbara S Griss; Shandra L Protzko; Holger J Schünemann

American journal of respiratory and critical care medicine New York v. 183, n. 6, p. 788-824, 2011

New York 2011

Localização: FM - Fac. Medicina    (BCBIB )(Acessar)

5
Clinical and genetic characterization of leukoencephalopathies in adults
Clinical and genetic characterization of leukoencephalopathies in adults
Material Type:
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Clinical and genetic characterization of leukoencephalopathies in adults

David S. Lynch Anderson Rodrigues Brandão de Paiva; Wei Jia Zhang; Enrico Bugiardini; Fernando Freua; Leandro Tavares Lucato; Lucia Inês Macedo-Souza; Rahul Lakshmanan; Justin A Kinsella Aine Merwick; Alexander M Rossor; Nin Bajaj; Brian Herron; Paul McMonagle Morrison. Patrick J.; Deborah Hughes; Alan Pittman; Matilde Laurà Reilly. Mary M.; Jason D Warren; Catherine J Mummery; Jonathan M Schott; Matthew Adams; Nick C Fox; Elaine Murphy; Indran Davagnanam; Fernando Kok; Jeremy Chataway; Henry Houlden

Brain London v. 140, n. 5, p. 1204-1211, 2017

London 2017

Localização: FM - Fac. Medicina    (BCSEP 218 2017 )(Acessar)

6
Connective tissue disease related interstitial lung diseases and idiopathic pulmonary fibrosis provisional core sets of domains and instruments for use in clinical trials
Connective tissue disease related interstitial lung diseases and idiopathic pulmonary fibrosis provisional core sets of domains and instruments for use in clinical trials
Material Type:
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Connective tissue disease related interstitial lung diseases and idiopathic pulmonary fibrosis provisional core sets of domains and instruments for use in clinical trials

Lesley Ann Saketkoo Shikha Mittoo; Dörte Huscher; Dinesh Khanna; Paul F Dellaripa; Oliver Distler; Kevin R Flaherty; Sid Frankel; Chester V Oddis; Christopher P Denton; Aryeh Fischer; Otylia M Kowal-Bielecka; Daphne LeSage; Peter A Merkel; Kristine Phillips; David Pittrow; Jeffrey Swigris; Katerina Antoniou; Robert P Baughman; Flavia V Castelino; Romy B Christmann; Lisa Christopher-Stine; Harold R Collard; Vincent Cottin; Sonye Danoff; Kristin B Highland; Laura Hummers; Ami A Shah; Dong Soon Kim; David A Lynch; Frederick W Miller; Susanna M Proudman; Luca Richeldi; Jay H Ryu; Nora Sandorfi; Catherine Sarver; Athol U Wells; Vibeke Strand; Eric L Matteson; Kevin K Brown; James R Seibold; Carlos Roberto Ribeiro De Carvalho; Ronaldo Adib Kairalla; José Antônio Baddini Martinez; CTD-ILD Special Interest Group

Thorax London v. 69, n. 5, p. 428-436, 2014

London 2014

Localização: FM - Fac. Medicina    (OPI 33045 2014 ) e outros locais(Acessar)

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Deste Autor:

  1. Lynch, D
  2. Kok, F
  3. Freua, F
  4. Paiva, A
  5. Houlden, H

Neste Assunto:

  1. Mutação Genética
  2. Doenças Pulmonares Intersticiais
  3. Doenças Neurodegenerativas
  4. Distrofia Muscular
  5. Exons

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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