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Tijdschrift beschrijving
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7 gevonden resultaten
| nr | titel | auteur | tijdschrift | jaar | jaarg. | afl. | pagina('s) | type |
| 1 | A novel variant of DeSanto-Shinawi Syndrome with joint manifestations |
Branco, Joana |
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65 | 7 |
p. |
artikel |
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| 2 | Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review |
Hendricks, Linda A.J. |
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65 | 7 |
p. |
artikel |
|
| 3 | Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists |
McTague, Amy |
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65 | 7 |
p. |
artikel |
|
| 4 | Dysmorphism and immunodeficiency - One of the differential diagnoses is PAX1 related otofaciocervical syndrome type 2 |
Sherlaw-Sturrock, Charlotte |
|
65 | 7 |
p. |
artikel |
|
| 5 | Editorial Board |
|
65 | 7 |
p. |
artikel |
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| 6 | Involvement of cranial nerves in ATTR Ile127Val amyloidosis |
Silva Batista, Jemima A. da |
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65 | 7 |
p. |
artikel |
|
| 7 | ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review |
Kamal, Neda |
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65 | 7 |
p. |
artikel |
7 gevonden resultaten
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