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Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility

PLoS genetics, 2021-02, Vol.17 (2), p.e1009306-e1009306

2021

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Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system

Molecular human reproduction, 2021-02, Vol.27 (3)

2021

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Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7

Cells (Basel, Switzerland), 2024-07, Vol.13 (14), p.1200

2024

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De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

American journal of human genetics, 2019-11, Vol.105 (5), p.1030-1039

2019

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Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

American journal of human genetics, 2017-01, Vol.100 (1), p.160-168

2017

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Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure

American journal of respiratory cell and molecular biology, 2022-09, Vol.67 (3), p.409-413

2022

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A range of 30%–62% of functioning multiciliated airway cells is sufficient to maintain ciliary airway clearance

The European respiratory journal, 2024-07, p.2301441

2024

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Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

American journal of human genetics, 2018-05, Vol.102 (5), p.973-984

2018

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CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

Nature communications, 2020-11, Vol.11 (1), p.5520-5520, Article 5520

2020

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Pathogenic variants in CLXN encoding the outer dynein arm docking–associated calcium-binding protein calaxin cause primary ciliary dyskinesia

Genetics in medicine, 2023-05, Vol.25 (5), p.100798-100798, Article 100798

2023

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Sweet taste in apple: the role of sorbitol, individual sugars, organic acids and volatile compounds

Scientific reports, 2017-03, Vol.7 (1), p.44950-44950, Article 44950

2017

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Insect-based feed in aquaculture: A consumer attitudes study

Aquaculture, 2024-03, Vol.582, p.740512, Article 740512

2024

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Arousal influences olfactory abilities in adults with different degree of food neophobia

Scientific reports, 2020-11, Vol.10 (1), p.20538-20538, Article 20538

2020

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Does the 'Mountain Pasture Product' Claim Affect Local Cheese Acceptability?

Foods, 2021-03, Vol.10 (3), p.682

2021

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Multivariate data analysis strategy to monitor Trentingrana cheese real-scale production through volatile organic compounds profiling

Food science & technology, 2023-01, Vol.173, p.114364, Article 114364

2023

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Dynamic and static sensory methods to study the role of aroma on taste and texture: A multisensory approach to apple perception

Food quality and preference, 2017-12, Vol.62, p.17-30

2017

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High Pressure Carbon Dioxide pasteurization of coconut water: A sport drink with high nutritional and sensory quality

Journal of food engineering, 2015-01, Vol.145, p.73-81

2015

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Effects of Pasteurization on Volatile Compounds and Sensory Properties of Coconut (Cocos nucifera L.) Water: Thermal vs. High-Pressure Carbon Dioxide Pasteurization

Food and bioprocess technology, 2015-07, Vol.8 (7), p.1393-1404

2015

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Effects of the sound of the bite on apple perceived crispness and hardness

Food quality and preference, 2014-12, Vol.38, p.58-64

2014

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A combined sensory-instrumental tool for apple quality evaluation

Postharvest biology and technology, 2014-10, Vol.96, p.135-144

2014

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Relationship between Sensory Attributes, (Dis) Liking and Volatile Organic Composition of Gorgonzola PDO Cheese

Foods, 2021-11, Vol.10 (11), p.2791

2021

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Modulation of endotoxicity of Shigella generalized modules for membrane antigens (GMMA) by genetic lipid A modifications: relative activation of TLR4 and TLR2 pathways in different mutants

The Journal of biological chemistry, 2014-09, Vol.289 (36), p.24922-24935

2014

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Investigation of Volatile Compounds in Two Raspberry Cultivars by Two Headspace Techniques: Solid-Phase Microextraction/Gas Chromatography−Mass Spectrometry (SPME/GC−MS) and Proton-Transfer Reaction−Mass Spectrometry (PTR−MS)

Journal of agricultural and food chemistry, 2009-05, Vol.57 (10), p.4011-4018

2009

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Sensory and instrumental profiling of 18 apple cultivars to investigate the relation between perceived quality and odour and flavour

Food research international, 2012-12, Vol.49 (2), p.677-686

2012

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Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility

Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure

A range of 30%–62% of functioning multiciliated airway cells is sufficient to maintain ciliary airway clearance

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

Pathogenic variants in CLXN encoding the outer dynein arm docking–associated calcium-binding protein calaxin cause primary ciliary dyskinesia

Sweet taste in apple: the role of sorbitol, individual sugars, organic acids and volatile compounds

Insect-based feed in aquaculture: A consumer attitudes study

Arousal influences olfactory abilities in adults with different degree of food neophobia

Does the 'Mountain Pasture Product' Claim Affect Local Cheese Acceptability?

Multivariate data analysis strategy to monitor Trentingrana cheese real-scale production through volatile organic compounds profiling

Dynamic and static sensory methods to study the role of aroma on taste and texture: A multisensory approach to apple perception

High Pressure Carbon Dioxide pasteurization of coconut water: A sport drink with high nutritional and sensory quality

Effects of Pasteurization on Volatile Compounds and Sensory Properties of Coconut (Cocos nucifera L.) Water: Thermal vs. High-Pressure Carbon Dioxide Pasteurization

Effects of the sound of the bite on apple perceived crispness and hardness

A combined sensory-instrumental tool for apple quality evaluation

Relationship between Sensory Attributes, (Dis) Liking and Volatile Organic Composition of Gorgonzola PDO Cheese

Modulation of endotoxicity of Shigella generalized modules for membrane antigens (GMMA) by genetic lipid A modifications: relative activation of TLR4 and TLR2 pathways in different mutants

Investigation of Volatile Compounds in Two Raspberry Cultivars by Two Headspace Techniques: Solid-Phase Microextraction/Gas Chromatography−Mass Spectrometry (SPME/GC−MS) and Proton-Transfer Reaction−Mass Spectrometry (PTR−MS)

Sensory and instrumental profiling of 18 apple cultivars to investigate the relation between perceived quality and odour and flavour

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