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Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals

• Authors : Fernando Santos-Simarro; Aude Annick Suter; Uwe Kornak ...

Subjects: Adult; bronchomalacia; 2716 Genetics (clinical)

• Source: American Journal of Medical Genetics Part ASuter, A A, Santos-Simarro, F, Toerring, P M, Abad Perez, A, Ramos-Mejia, R, Heath, K E, Huckstadt, V, Parrón-Pajares,

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A Prospective Pilot Study to Identify a Myocarditis Cohort who may Safely Resume Sports Activities 3 Months after Diagnosis

• Authors : Leslie T. Cooper; Thomas F Luescher; Christine K. Kissel ...

Subjects: Male; 0301 basic medicine; Time Factors

• Source: Journal of Cardiovascular Translational Research

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Calorie restriction improves metabolic state independently of gut microbiome composition: a randomized dietary intervention trial

• Authors : Sowah, Solomon A; Milanese, Alessio; Schübel, Ruth ...

Subjects: Adult; 2716 Genetics (clinical); Weight loss

• Source: Sowah, S A, Milanese, A, Schübel, R, Wirbel, J, Kartal, E, Johnson, T S, Hirche, F, Grafetstätter, M, Nonnenmacher, T, Kirsten, R, López-Nogueroles, M, Lahoz, A, Schwarz, K V, Okun, J G, Ulrich, C

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Prenatal diagnosis of HNF1B ‐associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?

• Authors : Jan Frederik Schaefer; Mandy Krumbiegel; Bernt Popp ...

Subjects: Adult; Male; 2716 Genetics (clinical)

• Source: Prenatal Diagnosis. 39:1136-1147

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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies

• Authors : Beat Steinmann; Gabor Matyas; Janine Meienberg ...

Subjects: Male; 0301 basic medicine; Fibrillin-2

• Source: Clinical Genetics

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Impact of single and combined rare diseases on adult inpatient outcomes: a retrospective, cross-sectional study of a large inpatient population

• Authors : Reka Maria Blazsik; Karol Tarcak; Holger Dressel ...

Subjects: Adult; Male; 0301 basic medicine

• Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)Orphanet Journal of Rare Diseases

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Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes

• Authors : Katharina Steindl; Christina Gerth-Kahlert; Silke Feil ...

Subjects: Male; 0301 basic medicine; 10039 Institute of Medical Genetics

• Source: Genes, Vol 12, Iss 65, p 65 (2021)Genes, 12 (1)GenesVolume 12Issue 1

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Prediction of combination therapies based on topological modeling of the immune signaling network in multiple sclerosis

• Authors : Tomas Olsson; Janina Behrens; Pablo Villoslada ...

Subjects: 0301 basic medicine; Male; Proteomics

• Source: Dipòsit Digital de Documents de la UABUniversitat Autònoma de BarcelonaGenome Medicine, Vol 13, Iss 1, Pp 1-16 (2021)Genome MedicineDigital.CSIC. Repositorio Institucional

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Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency

• Authors : Saadet Mercimek-Andrews; Stacy Hewson; David Chitayat ...

Subjects: 0301 basic medicine; Adult; Male

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Myoglobin for Detection of High-Risk Patients with Acute Myocarditis

• Authors : Nora Baltensperger; Bettina Heidecker; Marina Lovrinovic ...

Subjects: 0301 basic medicine; Male; 3003 Pharmaceutical Science

• Source: Journal of Cardiovascular Translational Research

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