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Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy
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Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

Mendes, Marisa I. ; Gutierrez Salazar, Mariana ; Guerrero, Kether ; Thiffault, Isabelle ; Salomons, Gajja S. ; Gauquelin, Laurence ; Tran, Luan T. ; Forget, Diane ; Gauthier, Marie-Soleil ; Waisfisz, Quinten ; Smith, Desiree E.C. ; Simons, Cas ; van der Knaap, Marjo S. ; Marquardt, Iris ; Lemes, Aida ; Mierzewska, Hanna ; Weschke, Bernhard ; Koehler, Wolfgang ; Coulombe, Benoit ; Wolf, Nicole I. ; Bernard, Geneviève

American journal of human genetics, 2018-04, Vol.102 (4), p.676-684 [Periódico revisado por pares]

United States: Elsevier Inc

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12
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails
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Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails

Kuo, Molly E. ; Theil, Arjan F. ; Kievit, Anneke ; Malicdan, May Christine ; Introne, Wendy J. ; Christian, Thomas ; Verheijen, Frans W. ; Smith, Desiree E.C. ; Mendes, Marisa I. ; Hussaarts-Odijk, Lidia ; van der Meijden, Eric ; van Slegtenhorst, Marjon ; Wilke, Martina ; Vermeulen, Wim ; Raams, Anja ; Groden, Catherine ; Shimada, Shino ; Meyer-Schuman, Rebecca ; Hou, Ya Ming ; Gahl, William A. ; Antonellis, Anthony ; Salomons, Gajja S. ; Mancini, Grazia M.S.

American journal of human genetics, 2019-03, Vol.104 (3), p.520-529 [Periódico revisado por pares]

United States: Elsevier Inc

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13
Estimating the health impacts of sugar-sweetened beverage tax for informing policy decisions about the obesity burden in Vietnam
Estimating the health impacts of sugar-sweetened beverage tax for informing policy decisions about the obesity burden in Vietnam
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Estimating the health impacts of sugar-sweetened beverage tax for informing policy decisions about the obesity burden in Vietnam

Nguyen, Duyen Thuy ; Hoang, Minh Van ; Dao, Son ; Do, Phuong Hong ; Nguyen, Quang Dinh ; Jewell, Jo ; Amies-Cull, Ben ; Muthu, Maharajan ; Hoang, Ly-Na ; Le, Thu Thi ; Nguyen, An Thi ; Tran, Bao Quoc ; O'Neill, Ciaran Mendes, Larissa Loures

PloS one, 2023-04, Vol.18 (4), p.e0274928-e0274928 [Periódico revisado por pares]

United States: Public Library of Science

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14
FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs
FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs
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FARS1‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐tRNA synthetase genes: Look beyond the lungs

Schuch, Luise A. ; Forstner, Maria ; Rapp, Christina K. ; Li, Yang ; Smith, Desiree E. C. ; Mendes, Marisa I. ; Delhommel, Florent ; Sattler, Michael ; Emiralioğlu, Nagehan ; Taskiran, Ekim Z. ; Orhan, Diclehan ; Kiper, Nural ; Rohlfs, Meino ; Jeske, Tim ; Hastreiter, Maximilian ; Gerstlauer, Michael ; Torrent‐Vernetta, Alba ; Moreno‐Galdó, Antonio ; Kammer, Birgit ; Brasch, Frank ; Reu‐Hofer, Simone ; Griese, Matthias

Clinical genetics, 2021-06, Vol.99 (6), p.789-801 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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15
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants
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Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants

Lenz, Dominic ; Stahl, Mirjam ; Seidl, Elias ; Schöndorf, Dominik ; Brennenstuhl, Heiko ; Gesenhues, Florian ; Heinzmann, Tina ; Longerich, Thomas ; Mendes, Marisa I. ; Prokisch, Holger ; Salomons, Gajja S. ; Schön, Carola ; Smith, Desirée E. C. ; Sommerburg, Olaf ; Wagner, Matias ; Westhoff, Jens H. ; Reiter, Karl ; Staufner, Christian ; Griese, Matthias

Pediatric pulmonology, 2020-11, Vol.55 (11), p.3057-3066 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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16
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization
Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization
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Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization

Tabolacci, Elisabetta ; Molinario, Clelia ; Marangi, Giuseppe ; Nobile, Veronica ; Arena, Vincenzo ; Mendes, Marisa I. ; Smith, Desiree E. C. ; Salomons, Gajja S. ; Tana, Milena ; Costa, Simonetta ; Vento, Giovanni ; Genuardi, Maurizio

Clinical genetics, 2021-04, Vol.99 (4), p.601-603 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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17
Quality of Life of Cancer Patients during Chemotherapy in Indonesia: A Comparison of EORTC QLQ-C30 and EQ-5D-5L, Based on Patients’ Characteristics
Quality of Life of Cancer Patients during Chemotherapy in Indonesia: A Comparison of EORTC QLQ-C30 and EQ-5D-5L, Based on Patients’ Characteristics
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Quality of Life of Cancer Patients during Chemotherapy in Indonesia: A Comparison of EORTC QLQ-C30 and EQ-5D-5L, Based on Patients’ Characteristics

Perwitasari, Dyah A. ; Purba, Fredrick D. ; Candradewi, Susan F. ; Dania, Haafizah ; Muhammad Irham, Lalu ; Noor Faridah, Imaniar ; Septiantoro, Bayu P. Amaral Mendes, Rui

International journal of clinical practice (Esher), 2023, Vol.2023, p.9357299-9 [Periódico revisado por pares]

India: Hindawi

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18
Two cases of proliferation of monoclonal and monotypic lymphocytes and plasma cells corresponding to acrodermatitis chronica atrophicans
Two cases of proliferation of monoclonal and monotypic lymphocytes and plasma cells corresponding to acrodermatitis chronica atrophicans
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Two cases of proliferation of monoclonal and monotypic lymphocytes and plasma cells corresponding to acrodermatitis chronica atrophicans

Bertolotti, A ; Pham-Ledard, A ; Petrot, D ; Coindre, M-C ; Brecheteau, P ; Mendes, I ; Vergier, B ; Beylot-Barry, M

Annales de dermatologie et de vénéréologie, 2014-06, Vol.141 (6-7), p.452-457 [Periódico revisado por pares]

France

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19
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity
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Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

Mendes, Marisa I ; Smith, Desirée EC ; Pop, Ana ; Lennertz, Pascal ; Fernandez Ojeda, Matilde R ; Kanhai, Warsha A ; Dooren, Silvy JM ; Anikster, Yair ; Barić, Ivo ; Boelen, Caroline ; Campistol, Jaime ; Boer, Lonneke ; Kariminejad, Ariana ; Kayserili, Hulya ; Roubertie, Agathe ; Verbruggen, Krijn T ; Vianey‐Saban, Christine ; Williams, Monique ; Salomons, Gajja S

Human mutation, 2017-05, Vol.38 (5), p.524-531 [Periódico revisado por pares]

United States: Hindawi Limited

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20
Anti-androgenic effects of sewage treatment plant effluents in the prosobranch gastropod Nucella lapillus
Anti-androgenic effects of sewage treatment plant effluents in the prosobranch gastropod Nucella lapillus
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Anti-androgenic effects of sewage treatment plant effluents in the prosobranch gastropod Nucella lapillus

Santos, M.M. ; Reis-Henriques, M.A. ; Guillot, R. ; Lima, D. ; Franco-Duarte, R. ; Mendes, I. ; Queirós, S. ; Castro, L. Filipe C.

Comparative biochemistry and physiology. Toxicology & pharmacology, 2008-07, Vol.148 (1), p.87-93 [Periódico revisado por pares]

United States: Elsevier Inc

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Deste Autor:

  1. Manganote, E
  2. Staut, L
  3. Henry, M
  4. Rizzi, C
  5. Viterbo, F

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  1. Male
  2. Male
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  4. Life Sciences & Biomedicine
  5. Humans

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