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Your search keyword '"van Haelst, Mieke M"' showing total 10 results

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10 results on '"van Haelst, Mieke M"'

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1. The utility of obesity polygenic risk scores from research to clinical practice: A review.

2. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

4. Extensive Phenotyping for Potential Weight-Inducing Factors in an Outpatient Population with Obesity.

5. Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.

6. Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.

7. Further confirmation of the MED13L haploinsufficiency syndrome.

8. Mutations in GRIP1 cause Fraser syndrome.

9. The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature.

10. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

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