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PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.591-610

2019

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Applying genomic and transcriptomic advances to mitochondrial medicine

Nature reviews. Neurology, 2021-04, Vol.17 (4), p.215-230

2021

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Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

Genome medicine, 2021-02, Vol.13 (1), p.34-34, Article 34

2021

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Discussion of off-target and tentative genomic findings may sometimes be necessary to allow evaluation of their clinical significance

Journal of medical ethics, 2024-05, Vol.50 (5), p.295-298

2024

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Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications

Nature reviews. Genetics, 2021-09, Vol.22 (9), p.547-548

2021

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De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features

Brain (London, England : 1878), 2024-08, Vol.147 (8), p.2732-2744

2024

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Percutaneous endoscopic gastrostomy for refractory epilepsy and medication refusal

Archives of disease in childhood, 2019-07, Vol.104 (7), p.690-692

2019

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The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India

European journal of human genetics : EJHG, 2024-09, Vol.32 (9), p.1053-1064

2024

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Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications

Expert review of molecular diagnostics, 2023-07, Vol.23 (9), p.797-814

2023

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Mitochondrial Strokes: Diagnostic Challenges and Chameleons

Genes, 2021-10, Vol.12 (10), p.1643

2021

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Environmental Context and Recognition: The Role of Recollection and Familiarity

Journal of experimental psychology. Learning, memory, and cognition, 2002-01, Vol.28 (1), p.153-161

Macken, William J

2002

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The Ineluctable Modality of the Audible: Perceptual Determinants of Auditory Verbal Short-Term Memory

Journal of experimental psychology. Human perception and performance, 2012-08, Vol.38 (4), p.989-997

2012

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Perceptual organization masquerading as phonological storage: Further support for a perceptual-gestural view of short-term memory

Journal of memory and language, 2006-02, Vol.54 (2), p.265-281

2006

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The Phonological Store of Working Memory: Is It Phonological and Is It a Store?

Journal of experimental psychology. Learning, memory, and cognition, 2004-05, Vol.30 (3), p.656-674

2004

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What causes auditory distraction?

Psychonomic bulletin & review, 2009-02, Vol.16 (1), p.139-144

2009

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Auditory distraction and serial memory: the avoidable and the ineluctable

Noise & health, 2010-10, Vol.12 (49), p.201-209

2010

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Auditory Distraction and Short-Term Memory: Phenomena and Practical Implications

Human factors, 2001-03, Vol.43 (1), p.12-29

2001

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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Nature communications, 2022-11, Vol.13 (1), p.6324-6324, Article 6324

2022

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Linguistic familiarity in short-term memory: A role for (co-)articulatory fluency?

Journal of memory and language, 2008, Vol.58 (1), p.48-65

2008

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Listen Out! Behavioural and Subjective Responses to Verbal Warnings

Applied cognitive psychology, 2012-05, Vol.26 (3), p.451-461

2012

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Does Auditory Streaming Require Attention? Evidence From Attentional Selectivity in Short-Term Memory

Journal of experimental psychology. Human perception and performance, 2003-02, Vol.29 (1), p.43-51

2003

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Irrelevant Tones Produce an Irrelevant Speech Effect: Implications for Phonological Coding in Working Memory

Journal of experimental psychology. Learning, memory, and cognition, 1993-03, Vol.19 (2), p.369-381

1993

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Phonological Similarity in the Irrelevant Speech Effect: Within- or Between-Stream Similarity?

Journal of experimental psychology. Learning, memory, and cognition, 1995-01, Vol.21 (1), p.103-115

1995

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Introducing The International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD)

Journal of the neurological sciences, 2021-10, Vol.429, p.117765, Article 117765

2021

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PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature

Applying genomic and transcriptomic advances to mitochondrial medicine

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

Discussion of off-target and tentative genomic findings may sometimes be necessary to allow evaluation of their clinical significance

Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications

De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features

Percutaneous endoscopic gastrostomy for refractory epilepsy and medication refusal

The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications

Mitochondrial Strokes: Diagnostic Challenges and Chameleons

Environmental Context and Recognition: The Role of Recollection and Familiarity

The Ineluctable Modality of the Audible: Perceptual Determinants of Auditory Verbal Short-Term Memory

Perceptual organization masquerading as phonological storage: Further support for a perceptual-gestural view of short-term memory

The Phonological Store of Working Memory: Is It Phonological and Is It a Store?

What causes auditory distraction?

Auditory distraction and serial memory: the avoidable and the ineluctable

Auditory Distraction and Short-Term Memory: Phenomena and Practical Implications

Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

Linguistic familiarity in short-term memory: A role for (co-)articulatory fluency?

Listen Out! Behavioural and Subjective Responses to Verbal Warnings

Does Auditory Streaming Require Attention? Evidence From Attentional Selectivity in Short-Term Memory

Irrelevant Tones Produce an Irrelevant Speech Effect: Implications for Phonological Coding in Working Memory

Phonological Similarity in the Irrelevant Speech Effect: Within- or Between-Stream Similarity?

Introducing The International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD)

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