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De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement

American journal of human genetics, 2022-10, Vol.109 (10), p.1932-1943

2022

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Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements

European journal of human genetics : EJHG, 2015-01, Vol.23 (1), p.61-66

2015

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Scurvy in New Zealand - a forgotten disease

New Zealand medical journal, 2017-04, Vol.130 (1454), p.86-87

Bartley, James

2017

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Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate

Molecular genetics and metabolism reports, 2016-03, Vol.6 (C), p.34-40

2016

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A comparison of clinical features in two patients with mucopolysaccharidosis type VI treated with ERT versus HSCT

Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S34-S34

2022

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Fluconazole-Induced Congenital Anomalies in Three Infants

Clinical infectious diseases, 1996-02, Vol.22 (2), p.336-340

1996

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Analysis of speech characteristics in children with velocardiofacial syndrome (vcfs) and children with phenotypic overlap without VCFS

The Cleft palate-craniofacial journal, 2001-09, Vol.38 (5), p.455-467

2001

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Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation

Human mutation, 2013-03, Vol.34 (3), p.446-452

2013

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Inversion of Zenker's diverticulum: The preferred option

Head & neck, 1993-05, Vol.15 (3), p.253-256

1993

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Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials

Molecular genetics and metabolism, 2015-09, Vol.116 (1-2), p.29-34

2015

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Correlation of nasal morphology to air-conditioning and clearance function

Respiratory physiology & neurobiology, 2011-12, Vol.179 (2), p.137-141

2011

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Nasal levels of nitric oxide as an outcome variable in allergic upper respiratory tract disease: Influence of atopy and hayfever on nNO

American journal of rhinology, 2006-09, Vol.20 (5), p.425-429

2006

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BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS

Genetics in medicine, 2014-12, Vol.17 (7), p.561-568

2014

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Increased nitric oxide production in the respiratory tract in asymptomatic Pacific Islanders: An association with skin prick reactivity to house dust mite

Journal of allergy and clinical immunology, 2000-05, Vol.105 (5), p.895-899

2000

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Abnormality of chromosome 11 in patients withfeatures of Beckwith-Wiedemann syndrome

The Journal of pediatrics, 1983-06, Vol.102 (6), p.873-876

1983

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Partial hexasomy of chromosome 15

American journal of medical genetics, 2003-09, Vol.121A (3), p.277-280

2003

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Maxillary sinusitis caused by medusoid form of Schizophyllum commune

Journal of clinical microbiology, 1999-10, Vol.37 (10), p.3395-3398

1999

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Inversion of Zenker's diverticulum

Head & neck, 1994-05, Vol.16 (3), p.291-292

1994

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Further Studies of a Thymus Nucleohistone-associated Protease

The Journal of biological chemistry, 1970-09, Vol.245 (17), p.4286-4292

1970

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Normal adult values, diurnal variation, and repeatability of nasal nitric oxide measurement

American journal of rhinology, 1999-09, Vol.13 (5), p.401-406

1999

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Glycerol kinase deficiency inhibits glycerol utilization in phosphoglyceride and triacylglycerol biosynthesis

Pediatric research, 1985-03, Vol.19 (3), p.313-314

1985

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Analysis of Speech Characteristics in Children with Velocardiofacial Syndrome (VCFS) and Children with Phenotypic Overlap without VCFS

The Cleft palate-craniofacial journal, 2001-09, Vol.38 (5), p.455-467

2001

Volltextzugriff (PDF)

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