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Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive

Journal of medical genetics, 2022-07, Vol.59 (7), p.662-668

2022

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Early motor and pre-linguistic verbal development in Prader-Willi syndrome – A case report

Research in developmental disabilities, 2019-05, Vol.88, p.16-21

2019

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Nachruf Prof. Dr. med. Michael Speicher

Medizinische Genetik, 2023-12, Vol.35 (4), p.297-298

2023

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Application and challenges of TCR and BCR sequencing to investigate T- and B-cell clonality in elastase-induced experimental murine abdominal aortic aneurysm

Frontiers in cardiovascular medicine, 2023-11, Vol.10, p.1221620-1221620

2023

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Nachruf Prof. Dr. med. Michael Speicher

Medizinische Genetik, 2023-12, Vol.35 (4), p.297-298

2023

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Medication adherence among pregnant women with hypothyroidism—missed opportunities to improve reproductive health? A cross-sectional, web-based study

Patient education and counseling, 2016-10, Vol.99 (10), p.1699-1707

2016

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The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies

Ultraschall in der Medizin, 2019-12, Vol.40 (6), p.692-721

2019

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Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

Journal of medical genetics, 2022-10, Vol.59 (10), p.957-964

2022

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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

American journal of human genetics, 2021-05, Vol.108 (5), p.857-873

2021

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An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

American journal of human genetics, 2023-11, Vol.110 (11), p.1959-1975

2023

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Myocardial Deformation Analysis in MYBPC3 and MYH7 Related Sarcomeric Hypertrophic Cardiomyopathy-The Graz Hypertrophic Cardiomyopathy Registry

Genes, 2021-09, Vol.12 (10), p.1469

2021

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Hypothyroidism and medication adherence in pregnancy – A cross-sectional, multinational web-based study

Reproductive toxicology (Elmsford, N.Y.), 2015-11, Vol.57, p.221-221

2015

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Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay

European journal of medical genetics, 2023-01, Vol.66 (1), p.104669-104669, Article 104669

2023

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Childhood-onset epileptic encephalopathy due to FGF12 exon 1–4 tandem duplication

Neurology. Genetics, 2020-10, Vol.6 (5), p.e494-e494

2020

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Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies

Oxidative medicine and cellular longevity, 2017-01, Vol.2017 (1), p.7202589-7202589

2017

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Risk factors for race-day fatality in flat racing Thoroughbreds in Great Britain (2000 to 2013)

PloS one, 2018-03, Vol.13 (3), p.e0194299-e0194299

2018

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Activation of β-Catenin Signaling in CD133-Positive Dermal Papilla Cells Drives Postnatal Hair Growth

PloS one, 2016-07, Vol.11 (7), p.e0160425-e0160425

2016

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Global meta-analysis reveals no net change in local-scale plant biodiversity over time

Proceedings of the National Academy of Sciences - PNAS, 2013-11, Vol.110 (48), p.19456-19459

2013

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The Idiosyncratic Nature of How Individuals Perceive, Represent, and Remember Their Surroundings and Its Impact on Learning-Based Generalization

Journal of experimental psychology. General, 2023-08, Vol.152 (8), p.2345-2358

2023

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Factors associated with rehoming and time until rehoming for horses listed with an equine charity

Veterinary record, 2019-09, Vol.185 (12), p.373-373

2019

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Use of antimicrobials licensed for systemic administration in UK equine practice

Equine veterinary journal, 2023-09, Vol.55 (5), p.808-819

2023

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The Application of Mealworm (Tenebrio molitor) Oil in Cosmetic Formulations

European journal of lipid science and technology, 2023-03, Vol.125 (3), p.n/a

2023

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Angiotensin-Converting Enzyme Inhibition and Parathyroid Hormone Secretion

International Journal of Endocrinology, 2017-01, Vol.2017 (2017), p.1-8

2017

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Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive

Early motor and pre-linguistic verbal development in Prader-Willi syndrome – A case report

Nachruf Prof. Dr. med. Michael Speicher

Application and challenges of TCR and BCR sequencing to investigate T- and B-cell clonality in elastase-induced experimental murine abdominal aortic aneurysm

Nachruf Prof. Dr. med. Michael Speicher

Medication adherence among pregnant women with hypothyroidism—missed opportunities to improve reproductive health? A cross-sectional, web-based study

The Fetal Posterior Fossa on Prenatal Ultrasound Imaging: Normal Longitudinal Development and Posterior Fossa Anomalies

Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

Effect of eplerenone on parathyroid hormone levels in patients with primary hyperparathyroidism: results from the EPATH randomized, placebo-controlled trial

Myocardial Deformation Analysis in MYBPC3 and MYH7 Related Sarcomeric Hypertrophic Cardiomyopathy-The Graz Hypertrophic Cardiomyopathy Registry

Hypothyroidism and medication adherence in pregnancy – A cross-sectional, multinational web-based study

Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay

Childhood-onset epileptic encephalopathy due to FGF12 exon 1–4 tandem duplication

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies

Risk factors for race-day fatality in flat racing Thoroughbreds in Great Britain (2000 to 2013)

Activation of β-Catenin Signaling in CD133-Positive Dermal Papilla Cells Drives Postnatal Hair Growth

Global meta-analysis reveals no net change in local-scale plant biodiversity over time

The Idiosyncratic Nature of How Individuals Perceive, Represent, and Remember Their Surroundings and Its Impact on Learning-Based Generalization

Factors associated with rehoming and time until rehoming for horses listed with an equine charity

Use of antimicrobials licensed for systemic administration in UK equine practice

The Application of Mealworm (Tenebrio molitor) Oil in Cosmetic Formulations

Angiotensin-Converting Enzyme Inhibition and Parathyroid Hormone Secretion

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