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Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis
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Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

El Chehadeh-Djebbar, Salima ; Blair, Edward ; Holder-Espinasse, Muriel ; Moncla, Anne ; Frances, Anne-Marie ; Rio, Marlène ; Debray, François-Guillaume ; Rump, Patrick ; Masurel-Paulet, Alice ; Gigot, Nadège ; Callier, Patrick ; Duplomb, Laurence ; Aral, Bernard ; Huet, Frédéric ; Thauvin-Robinet, Christel ; Faivre, Laurence

European journal of human genetics : EJHG, 2013-07, Vol.21 (7), p.736-742 [Periódico revisado por pares]

England: Nature Publishing Group

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2
REM sleep muscle activity in idiopathic REM sleep behavior disorder predicts phenoconversion
REM sleep muscle activity in idiopathic REM sleep behavior disorder predicts phenoconversion
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REM sleep muscle activity in idiopathic REM sleep behavior disorder predicts phenoconversion

McCarter, Stuart J ; Sandness, David J ; McCarter, Allison R ; Feemster, John C ; Teigen, Luke N ; Timm, Paul C ; Boeve, Bradley F ; Silber, Michael H ; St. Louis, Erik K

Neurology, 2019-09, Vol.93 (12), p.e1171-e1179 [Periódico revisado por pares]

United States: American Academy of Neurology

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3
Spinal Muscular Atrophy Hypotonia Detection Using Computer Vision and Artificial Intelligence
Spinal Muscular Atrophy Hypotonia Detection Using Computer Vision and Artificial Intelligence
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Spinal Muscular Atrophy Hypotonia Detection Using Computer Vision and Artificial Intelligence

Taleb, Adel ; Rambaud, Philippe ; Diop, Samuel ; Fauches, Raphaël ; Tomasik, Joanna ; Jouen, François ; Bergounioux, Jean

JAMA pediatrics, 2024-05, Vol.178 (5), p.500-502 [Periódico revisado por pares]

United States: American Medical Association

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4
Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome
Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome
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Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome

Güneş, Nilay ; Alkaya, Dilek Uludağ ; Demirbilek, Veysi ; Yalçınkaya, Cengiz ; Tüysüz, Beyhan

The Journal of pediatrics, 2023-01, Vol.252, p.93-100 [Periódico revisado por pares]

United States: Elsevier Inc

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Hypotonia: Is It a Clear Term and an Objective Diagnosis? An Exploratory Systematic Review
Hypotonia: Is It a Clear Term and an Objective Diagnosis? An Exploratory Systematic Review
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Hypotonia: Is It a Clear Term and an Objective Diagnosis? An Exploratory Systematic Review

De Santos-Moreno, María Guadalupe ; Velandrino-Nicolás, Antonio Pablo ; Gómez-Conesa, Antonia

Pediatric neurology, 2023-01, Vol.138, p.107-117 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review

Morton, Sarah U ; Christodoulou, John ; Costain, Gregory ; Muntoni, Francesco ; Wakeling, Emma ; Wojcik, Monica H ; French, Courtney E ; Szuto, Anna ; Dowling, James J ; Cohn, Ronald D ; Raymond, F. Lucy ; Darras, Basil T ; Williams, David A ; Lunke, Sebastian ; Stark, Zornitza ; Rowitch, David H ; Agrawal, Pankaj B

JAMA neurology, 2022-04, Vol.79 (4), p.405-413 [Periódico revisado por pares]

United States: American Medical Association

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7
Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants
Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants
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Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evaluation of Lower-Risk Infants

Tieder, Joel S ; Bonkowsky, Joshua L ; Etzel, Ruth A ; Franklin, Wayne H ; Gremse, David A ; Herman, Bruce ; Katz, Eliot S ; Krilov, Leonard R ; Merritt, 2nd, J Lawrence ; Norlin, Chuck ; Percelay, Jack ; Sapién, Robert E ; Shiffman, Richard N ; Smith, Michael B H

Pediatrics (Evanston), 2016-05, Vol.137 (5), p.1-1 [Periódico revisado por pares]

United States: American Academy of Pediatrics

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8
Developmental central hypotonia: implications for counselling, prognosis, and management
Developmental central hypotonia: implications for counselling, prognosis, and management
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Developmental central hypotonia: implications for counselling, prognosis, and management

Dan, Bernard

Developmental medicine and child neurology, 2022-01, Vol.64 (1), p.4-4 [Periódico revisado por pares]

England

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9
Psychobehavioural profile in narcolepsy type 1 with and without REM sleep behaviour disorder
Psychobehavioural profile in narcolepsy type 1 with and without REM sleep behaviour disorder
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Psychobehavioural profile in narcolepsy type 1 with and without REM sleep behaviour disorder

Mombelli, Samantha ; Ricordeau, François ; Gillard, Léa ; Lecca, Rosa ; Vidal, Tiphaine ; Pereira, Bruno ; Beudin, Patricia ; Vitello, Nicolas ; Bastuji, Helene ; Peter‐Derex, Laure ; Fantini, Maria Livia

Journal of sleep research, 2024-04, Vol.33 (2), p.e13925-n/a [Periódico revisado por pares]

England: Wiley

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10
Long-Term Follow-up Investigation of Isolated Rapid Eye Movement Sleep Without Atonia Without Rapid Eye Movement Sleep Behavior Disorder: A Pilot Study
Long-Term Follow-up Investigation of Isolated Rapid Eye Movement Sleep Without Atonia Without Rapid Eye Movement Sleep Behavior Disorder: A Pilot Study
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Long-Term Follow-up Investigation of Isolated Rapid Eye Movement Sleep Without Atonia Without Rapid Eye Movement Sleep Behavior Disorder: A Pilot Study

Stefani, Ambra ; Gabelia, David ; Högl, Birgit ; Mitterling, Thomas ; Mahlknecht, Philipp ; Stockner, Heike ; Poewe, Werner ; Frauscher, Birgit

Journal of clinical sleep medicine, 2015-11, Vol.11 (11), p.1273-1279

United States: American Academy of Sleep Medicine

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