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A review of filamin A mutations and associated interstitial lung disease

European journal of pediatrics, 2019-02, Vol.178 (2), p.121-129

2019

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Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Genetics in medicine, 2021-07, Vol.23 (7), p.1202-1210

2021

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COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap

Clinical genetics, 2020-03, Vol.97 (3), p.396-406

2020

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National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years

European journal of human genetics : EJHG, 2020-12, Vol.28 (12), p.1669-1674

2020

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Novel clinical and genetic insight into CXorf56-associated intellectual disability

European journal of human genetics : EJHG, 2020-03, Vol.28 (3), p.367-372

2020

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High dose of antibiotic colistin induces oligomerization of molecular chaperone HSP90

Journal of biochemistry (Tokyo), 2017-07, Vol.162 (1), p.27-36

2017

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Collection of patient-generated health data with a mobile application and transfer to hospital information system via QR codes

Computer methods and programs in biomedicine update, 2023, Vol.3, p.100099, Article 100099

2023

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Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis

American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2994-2998

2020

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GP75 Case of a lifetime – how mosaicism may mislead

Archives of disease in childhood, 2019-06, Vol.104 (Suppl 3), p.A60

2019

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HK1 haemolytic anaemia in association with a neurological phenotype and co‐existing CEP290 Meckel–Gruber in a Romani family

Clinical genetics, 2022-01, Vol.101 (1), p.142-143

2022

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An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene

Clinical genetics, 2021-02, Vol.99 (2), p.303-308

2021

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OC27 National newborn screening for cystic fibrosis: genetic data from the first 6 years

Archives of disease in childhood, 2019-06, Vol.104 (Suppl 3), p.A11

2019

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Type VI syndactyly with skeletal dysplasia: a new syndrome?

Clinical dysmorphology, 2019-01, Vol.28 (1), p.30-34

2019

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Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

European journal of human genetics : EJHG, 2023-12, Vol.31 (12), p.1430-1439

2023

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P1-3-8 Analysis of consensus receptor binding sites of histamine H3 receptor interacting proteins

Journal of Pharmacological Sciences, 2012, Vol.118 (suppl), p.139-139

2012

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Urban and Suburban Bay Area Radio Environment for the UAV communications

2021 IEEE International Symposium on Antennas and Propagation and USNC-URSI Radio Science Meeting (APS/URSI), 2021, p.905-906

2021

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270: Ultrasonic alteration of the estimated date of delivery increases caesarean delivery rates among induced labors for post term pregnancy

American journal of obstetrics and gynecology, 2008, Vol.199 (6), p.S87-S87

2008

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Radio environment measurement over the urban area for UAV communications

2020 International Symposium on Antennas and Propagation (ISAP), 2021, p.69-70

2021

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Cisplatin Inhibits AhR Activation

American journal of molecular biology, 2018, Vol.8 (1), p.69-82

2018

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Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis

American journal of medical genetics. Part A, 2020, Vol.182 (12), p.2994-2998

2020

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HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family

Clinical genetics, 2022, Vol.101 (1), p.142-143

2022

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Effects of thermal modification on the mechanical properties of the wood cell wall of soft wood: behavior of S2 cellulose microfibrils under tensile loading

Journal of materials science, 2020-04, Vol.55 (12), p.5038-5047

2020

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Synchrotron X-ray measurements of cellulose in the cell wall of aged wood under uniaxial loading

Holzforschung, 2023-04, Vol.77 (4), p.260-269

2023

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Quantitative relationship between climatic conditions and the conception rate of Japanese Black cattle in commercial cow–calf operations

Livestock science, 2019-10, Vol.228, p.170-176

2019

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The significance of lipid accumulation in breast carcinoma cells through perilipin 2 and its clinicopathological significance

Pathology international, 2019-08, Vol.69 (8), p.463-471

2019

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A review of filamin A mutations and associated interstitial lung disease

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

COL1‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap

National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years

Novel clinical and genetic insight into CXorf56-associated intellectual disability

High dose of antibiotic colistin induces oligomerization of molecular chaperone HSP90

Collection of patient-generated health data with a mobile application and transfer to hospital information system via QR codes

Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis

GP75 Case of a lifetime – how mosaicism may mislead

HK1 haemolytic anaemia in association with a neurological phenotype and co‐existing CEP290 Meckel–Gruber in a Romani family

An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene

OC27 National newborn screening for cystic fibrosis: genetic data from the first 6 years

Type VI syndactyly with skeletal dysplasia: a new syndrome?

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

P1-3-8 Analysis of consensus receptor binding sites of histamine H3 receptor interacting proteins

Urban and Suburban Bay Area Radio Environment for the UAV communications

270: Ultrasonic alteration of the estimated date of delivery increases caesarean delivery rates among induced labors for post term pregnancy

Radio environment measurement over the urban area for UAV communications

Cisplatin Inhibits AhR Activation

Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis

HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family

Effects of thermal modification on the mechanical properties of the wood cell wall of soft wood: behavior of S2 cellulose microfibrils under tensile loading

Synchrotron X-ray measurements of cellulose in the cell wall of aged wood under uniaxial loading

Quantitative relationship between climatic conditions and the conception rate of Japanese Black cattle in commercial cow–calf operations

The significance of lipid accumulation in breast carcinoma cells through perilipin 2 and its clinicopathological significance

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