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Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 ( MCT8) Gene

American journal of human genetics, 2005-07, Vol.77 (1), p.41-53

2005

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Disease burden and direct medical costs of incident adult ADHD: A retrospective longitudinal analysis based on German statutory health insurance claims data

European psychiatry, 2020-10, Vol.63 (1), p.e86-e86, Article e86

2020

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Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes

PloS one, 2015-02, Vol.10 (2), p.e0116454-e0116454

2015

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Spinal cord stimulation: a real-world data analysis on outcomes and differences between rechargeable and non-rechargeable implantable pulse generators

Journal of international medical research, 2021-08, Vol.49 (8), p.3000605211038457-3000605211038457

2021

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Rare missense variant p.Ala505Ser in the ZAK protein observed in a patient with split-hand/foot malformation from a non-consanguineous pedigree

Journal of international medical research, 2020-04, Vol.48 (4), p.300060519879293

2020

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Selective inhibition of N-linked glycosylation impairs receptor tyrosine kinase processing

Disease models & mechanisms, 2019-06, Vol.12 (6)

2019

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The Oxford Handbook of Sacramental Theology

Religious studies review, 2018-03, Vol.44 (1), p.19-20

Duguid‐May, Melanie A.

2018

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A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

Nature genetics, 2007-04, Vol.39 (4), p.451-453

2007

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Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism

Frontiers in molecular neuroscience, 2016-01, Vol.8, p.83-83

2016

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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Journal of medical genetics, 2007-07, Vol.44 (7), p.472-477

2007

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Decrease in (Major) Amputations in Diabetics: A Secondary Data Analysis by AOK Rheinland/Hamburg

Journal of diabetes research, 2016-01, Vol.2016, p.6247045-6

2016

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Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders

Molecular genetics & genomic medicine, 2019-04, Vol.7 (4), p.e00569-n/a

2019

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Arena syndrome is caused by a missense mutation in PLP1

American journal of medical genetics. Part A, 2009-05, Vol.149A (5), p.1081-1081

2009

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Epidemiology of Tumor-Induced Osteomalacia in Germany Based on Real World Data

Calcified tissue international, 2023-12, Vol.113 (6), p.630-639

2023

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Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability

The Journal of biological chemistry, 2017-05, Vol.292 (21), p.8948-8963

2017

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Prolonged treatment of patients with cancer associated thromboembolism (CAT). mapping of treatment landscape based on a German statutory health insurance (SHI) claims data analysis [CERTIFICAT]

Journal of clinical oncology, 2018-05, Vol.36 (15_suppl), p.e18855-e18855

2018

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Regulation of Myf5 Early Enhancer by Histone Acetyltransferase p300 during Stem Cell Differentiation

Molecular biology (New York), 2012-03, Vol.1

2012

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Imaging Intensity and Survival Outcomes in High-Risk Resected Melanoma Treated by Systemic Therapy at Recurrence

Annals of surgical oncology, 2020-10, Vol.27 (10), p.3683-3691

2020

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Epidemiologie reifzelliger T‐ und NK‐Zell‐Lymphome in Deutschland – Eine repräsentative Querschnittanalyse von GKV‐Routinedaten: Epidemiology of mature T/NK‐cell lymphomas in Germany – A representative cross‐sectional study based on SHI claims data

Journal der Deutschen Dermatologischen Gesellschaft, 2023-11, Vol.21 (11), p.1320-1328

2023

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Correction to: Imaging Intensity and Survival Outcomes in High-Risk Resected Melanoma Treated by Systemic Therapy at Recurrence

Annals of surgical oncology, 2020-12, Vol.27 (Suppl 3), p.976-977

2020

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Care reality of menopausal women in Germany: healthcare research using quantitative (SHI claims data) and qualitative (survey) data collection

Archives of gynecology and obstetrics, 2022-08, Vol.306 (2), p.513-521

2022

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Direct medical costs of ADHD and its comorbid conditions on basis of a claims data analysis

European psychiatry, 2019-05, Vol.58, p.38-44

2019

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Persistence With Biologic Therapy and Associated Costs of Patients With Inflammatory Bowel Disease: A German Retrospective Claims Data Analysis

Crohn's & colitis 360, 2021-04, Vol.3 (2), p.otab011-otab011

2021

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De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity

American journal of human genetics, 2020-10, Vol.107 (4), p.753-762

2020

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Anti-Yo antibody-mediated paraneoplastic cerebellar degeneration associated with cognitive affective syndrome in a patient with breast cancer: a case report and literature review

Current oncology (Toronto), 2018-12, Vol.25 (6), p.e585-591

2018

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Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 ( MCT8) Gene

Disease burden and direct medical costs of incident adult ADHD: A retrospective longitudinal analysis based on German statutory health insurance claims data

Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes

Spinal cord stimulation: a real-world data analysis on outcomes and differences between rechargeable and non-rechargeable implantable pulse generators

Rare missense variant p.Ala505Ser in the ZAK protein observed in a patient with split-hand/foot malformation from a non-consanguineous pedigree

Selective inhibition of N-linked glycosylation impairs receptor tyrosine kinase processing

The Oxford Handbook of Sacramental Theology

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Decrease in (Major) Amputations in Diabetics: A Secondary Data Analysis by AOK Rheinland/Hamburg

Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders

Arena syndrome is caused by a missense mutation in PLP1

Epidemiology of Tumor-Induced Osteomalacia in Germany Based on Real World Data

Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability

Prolonged treatment of patients with cancer associated thromboembolism (CAT). mapping of treatment landscape based on a German statutory health insurance (SHI) claims data analysis [CERTIFICAT]

Regulation of Myf5 Early Enhancer by Histone Acetyltransferase p300 during Stem Cell Differentiation

Imaging Intensity and Survival Outcomes in High-Risk Resected Melanoma Treated by Systemic Therapy at Recurrence

Epidemiologie reifzelliger T‐ und NK‐Zell‐Lymphome in Deutschland – Eine repräsentative Querschnittanalyse von GKV‐Routinedaten: Epidemiology of mature T/NK‐cell lymphomas in Germany – A representative cross‐sectional study based on SHI claims data

Correction to: Imaging Intensity and Survival Outcomes in High-Risk Resected Melanoma Treated by Systemic Therapy at Recurrence

Care reality of menopausal women in Germany: healthcare research using quantitative (SHI claims data) and qualitative (survey) data collection

Direct medical costs of ADHD and its comorbid conditions on basis of a claims data analysis

Persistence With Biologic Therapy and Associated Costs of Patients With Inflammatory Bowel Disease: A German Retrospective Claims Data Analysis

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity

Anti-Yo antibody-mediated paraneoplastic cerebellar degeneration associated with cognitive affective syndrome in a patient with breast cancer: a case report and literature review

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