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Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults
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Artigo
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Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults

GALLIENNE, Alice E ; DREAU, Hélène M. P ; SCHUH, Anna ; OLD, John M ; HENDERSON, Shirley

Haematologica (Roma), 2012-03, Vol.97 (3), p.340-343 [Periódico revisado por pares]

Pavia: Ferrata Storti Foundation

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2
The Trajectory of Physical and Mental Health From Injury to 5 Years After Multiple Trauma: A Prospective, Longitudinal Cohort Study
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The Trajectory of Physical and Mental Health From Injury to 5 Years After Multiple Trauma: A Prospective, Longitudinal Cohort Study

Soberg, Helene L., PT, PhD ; Finset, Arnstein, PhD ; Roise, Olav, MD, PhD ; Bautz-Holter, Erik, MD, PhD

Archives of physical medicine and rehabilitation, 2012-05, Vol.93 (5), p.765-774 [Periódico revisado por pares]

New York, NY: Elsevier Inc

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3
Assessing Self-Care and Social Function Using a Computer Adaptive Testing Version of the Pediatric Evaluation of Disability Inventory
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Assessing Self-Care and Social Function Using a Computer Adaptive Testing Version of the Pediatric Evaluation of Disability Inventory

Coster, Wendy J., PhD, OTR/L ; Haley, Stephen M., PhD, PT ; Ni, Pengsheng, MD, MPH ; Dumas, Helene M., MS, PT ; Fragala-Pinkham, Maria A., MS, PT

Archives of physical medicine and rehabilitation, 2008-04, Vol.89 (4), p.622-629 [Periódico revisado por pares]

New York, NY: Elsevier Inc

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4
Distinct systemic and mucosal immune responses during acute SARS-CoV-2 infection
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Distinct systemic and mucosal immune responses during acute SARS-CoV-2 infection

Smith, Nikaïa ; Goncalves, Pedro ; Charbit, Bruno ; Grzelak, Ludivine ; Beretta, Maxime ; Planchais, Cyril ; Bruel, Timothée ; Rouilly, Vincent ; Bondet, Vincent ; Hadjadj, Jérôme ; Yatim, Nader ; Pere, Helene ; Merkling, Sarah H ; Ghozlane, Amine ; Kernéis, Solen ; Rieux-Laucat, Frederic ; Terrier, Benjamin ; Schwartz, Olivier ; Mouquet, Hugo ; Duffy, Darragh ; Di Santo, James P

Nature immunology, 2021-11, Vol.22 (11), p.1428-1439 [Periódico revisado por pares]

United States: Nature Publishing Group

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5
HLA-DR4 May Determine Expression of Actinic Prurigo in British Patients
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HLA-DR4 May Determine Expression of Actinic Prurigo in British Patients

Menagé, Hélène du P. ; Vaughan, Robert W. ; Baker, Christopher S. ; Page, Gareth ; Proby, Charlotte M. ; Breathnach, Stephen M. ; Hawk, John L.M.

Journal of investigative dermatology, 1996-02, Vol.106 (2), p.362-364 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Post-Transcriptional Genetic Silencing of BCL11A to Treat Sickle Cell Disease
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Post-Transcriptional Genetic Silencing of BCL11A to Treat Sickle Cell Disease

Esrick, Erica B ; Lehmann, Leslie E ; Biffi, Alessandra ; Achebe, Maureen ; Brendel, Christian ; Ciuculescu, Marioara F ; Daley, Heather ; MacKinnon, Brenda ; Morris, Emily ; Federico, Amy ; Abriss, Daniela ; Boardman, Kari ; Khelladi, Radia ; Shaw, Kit ; Negre, Helene ; Negre, Olivier ; Nikiforow, Sarah ; Ritz, Jerome ; Pai, Sung-Yun ; London, Wendy B ; Dansereau, Colleen ; Heeney, Matthew M ; Armant, Myriam ; Manis, John P ; Williams, David A

The New England journal of medicine, 2021-01, Vol.384 (3), p.205-215 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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7
SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance
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SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

Schiff, Manuel ; Veauville-Merllié, Alice ; Su, Chen Hsien ; Tzagoloff, Alexander ; Rak, Malgorzata ; Ogier de Baulny, Hélène ; Boutron, Audrey ; Smedts-Walters, Hélène ; Romero, Norma B ; Rigal, Odile ; Rustin, Pierre ; Vianey-Saban, Christine ; Acquaviva-Bourdain, Cécile

The New England journal of medicine, 2016-02, Vol.374 (8), p.795-797 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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8
Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial
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Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial

Franz, David Neal, Prof ; Belousova, Elena, MD ; Sparagana, Steven, MD ; Bebin, E Martina, MD ; Frost, Michael, MD ; Kuperman, Rachel, MD ; Witt, Olaf, MD ; Kohrman, Michael H, MD ; Flamini, J Robert, MD ; Wu, Joyce Y, MD ; Curatolo, Paolo, Prof ; de Vries, Petrus J, Prof ; Whittemore, Vicky H, PhD ; Thiele, Elizabeth A, MD ; Ford, James P, MS ; Shah, Gaurav, MD ; Cauwel, Helene, MSc ; Lebwohl, David, MD ; Sahmoud, Tarek, MD ; Jozwiak, Sergiusz, MD

The Lancet (British edition), 2013-01, Vol.381 (9861), p.125-132 [Periódico revisado por pares]

Kidlington: Elsevier Ltd

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9
An Update of Research Examining College Student Alcohol-Related Consequences: New Perspectives and Implications for Interventions
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An Update of Research Examining College Student Alcohol-Related Consequences: New Perspectives and Implications for Interventions

Mallett, Kimberly A. ; Varvil-Weld, Lindsey ; Borsari, Brian ; Read, Jennifer P. ; Neighbors, Clayton ; White, Helene R.

Alcoholism, clinical and experimental research, 2013-05, Vol.37 (5), p.709-716 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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10
Functional Somatic Symptoms in Children and Adolescents: A Stress-System Approach to Assessment and Treatment
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Livro
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Functional Somatic Symptoms in Children and Adolescents: A Stress-System Approach to Assessment and Treatment

Kozlowska, Kasia Scher, Stephen ; Helgeland, Helene

Netherlands: Springer Nature 2020

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