Publications
54 totalSynced from PubMed and ORCID. Updated nightly. Last sync: —
| Year | Title / Authors / Journal | Links |
|---|---|---|
| 2026 | Molecular genetics and metabolism | DOI ↗ PubMed ↗ |
| 2026 | European journal of human genetics : EJHG | DOI ↗ PubMed ↗ |
| 2026 | Nature communications | DOI ↗ PubMed ↗ |
| 2026 | Genetics in Medicine Open | DOI ↗ |
| 2025 | Investigative ophthalmology & visual science | DOI ↗ PubMed ↗ |
| 2025 | Liver international : official journal of the International Association for the Study of the Liver | DOI ↗ PubMed ↗ |
| 2025 | Genetics in medicine : official journal of the American College of Medical Genetics | DOI ↗ PubMed ↗ |
| 2025 | Clinical genetics | DOI ↗ PubMed ↗ |
| 2025 | Journal of inherited metabolic disease | DOI ↗ PubMed ↗ |
| 2024 | International journal of neonatal screening | DOI ↗ PubMed ↗ |
| 2024 | Journal of inherited metabolic disease | DOI ↗ PubMed ↗ |
| 2024 | Journal of inherited metabolic disease | DOI ↗ PubMed ↗ |
| 2024 | Life science alliance | DOI ↗ PubMed ↗ |
| 2024 | Clinical genetics | DOI ↗ PubMed ↗ |
| 2024 | Journal of medical genetics | DOI ↗ PubMed ↗ |
| 2024 | Journal of inherited metabolic disease | DOI ↗ PubMed ↗ |
| 2024 | DOI ↗ | |
| 2024 | medRxiv | DOI ↗ |
| 2023 | Annals of translational medicine | DOI ↗ PubMed ↗ |
| 2023 | Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz | DOI ↗ PubMed ↗ |
| 2023 | Genetics in medicine : official journal of the American College of Medical Genetics | DOI ↗ PubMed ↗ |
| 2023 | Computational and structural biotechnology journal | DOI ↗ PubMed ↗ |
| 2023 | Genetics in medicine : official journal of the American College of Medical Genetics | DOI ↗ PubMed ↗ |
| 2023 | bioRxiv | DOI ↗ |
| 2023 | Monatsschrift fur Kinderheilkunde | DOI ↗ |
| 2022 | Molecular genetics and metabolism | DOI ↗ PubMed ↗ |
| 2022 | Children (Basel, Switzerland) | DOI ↗ PubMed ↗ |
| 2022 | European journal of human genetics : EJHG | DOI ↗ PubMed ↗ |
| 2022 | The Lancet. Child & adolescent health | DOI ↗ PubMed ↗ |
| 2022 | Monatsschrift fur Kinderheilkunde | DOI ↗ |
| 2021 | Molecular genetics and metabolism | DOI ↗ PubMed ↗ |
| 2021 | Journal of inherited metabolic disease | DOI ↗ PubMed ↗ |
| 2021 | Human mutation | DOI ↗ PubMed ↗ |
| 2021 | Journal of inherited metabolic disease | DOI ↗ PubMed ↗ |
| 2021 | Journal of inherited metabolic disease | DOI ↗ PubMed ↗ |
| 2021 | BMJ open | DOI ↗ PubMed ↗ |
| 2021 | International journal of molecular sciences | DOI ↗ PubMed ↗ |
| 2021 | Monatsschrift fur Kinderheilkunde | DOI ↗ |
| 2021 | Monatsschrift fur Kinderheilkunde | DOI ↗ |
| 2021 | Research Square | DOI ↗ |
| 2021 | Monatsschrift fur Kinderheilkunde | DOI ↗ |
| 2020 | International journal of molecular sciences | DOI ↗ PubMed ↗ |
| 2020 | Pediatric pulmonology | DOI ↗ PubMed ↗ |
| 2020 | Genetics in medicine : official journal of the American College of Medical Genetics | DOI ↗ PubMed ↗ |
| 2020 | Molecular genetics and metabolism | DOI ↗ PubMed ↗ |
| 2020 | Cells | DOI ↗ PubMed ↗ |
| 2020 | Journal of inherited metabolic disease | DOI ↗ PubMed ↗ |
| 2020 | Research Square | DOI ↗ |
| 2020 | Inherited Disorders of Biogenic Amines: A Practical Guide UNI-MED Science | |
| 2020 | Movement Disorders and Inherited Metabolic Disorders | DOI ↗ |
| 2019 | Neuropediatrics | DOI ↗ PubMed ↗ |
| 2019 | medRxiv | DOI ↗ |
| 2015 | International journal of oncology | DOI ↗ PubMed ↗ |
| 2015 | Critical reviews in oncogenesis | DOI ↗ PubMed ↗ |