检索结果 - van Haelst, Mieke

Ciliary disturbances in syndromal and non-syndromal obesity 由 de Vries, Tamar I., van Haelst, Mieke M.

获取全文 获取全文 获取全文

Young adult with Cantú syndrome: dealing with a rare genetic skin disorder 由 Roessler, Helen I, van Haaften, Gijs, van Haelst, Mieke M

获取全文 获取全文 获取全文

Young girl with severe early-onset obesity and hyperphagia 由 Kleinendorst, Lotte, van Haelst, Mieke M, van den Akker, Erica L T

获取全文 获取全文 获取全文

4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype 由 Verberne, Eline A., Dalen Meurs, Lotje, Wolf, Nicole I., van Haelst, Mieke M.

获取全文 获取全文 获取全文

Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome 由 Kleinendorst, Lotte, van den Heuvel, Lieke M., Henneman, Lidewij, van Haelst, Mieke M.

获取全文 获取全文 获取全文

Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency 由 Verberne, Eline A., Faries, Sonja, Mannens, Marcel M. A. M., Postma, Alex V., van Haelst, Mieke M.

获取全文 获取全文 获取全文

Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain 由 Coban, Mathew A., Blackburn, Patrick R., Whitelaw, Murray L., van Haelst, Mieke M., Atwal, Paldeep S., Caulfield, Thomas R.

获取全文 获取全文 获取全文

Genetic analysis in the bariatric clinic; impact of a PTEN gene mutation 由 Cooiman, Mellody I., Kleinendorst, Lotte, van der Zwaag, Bert, Janssen, Ignace M. C., Berends, Frits J., van Haelst, Mieke M.

获取全文 获取全文 获取全文

Further confirmation of the MED13L haploinsufficiency syndrome 由 van Haelst, Mieke M, Monroe, Glen R, Duran, Karen, van Binsbergen, Ellen, Breur, Johannes M, Giltay, Jacques C, van Haaften, Gijs

获取全文 获取全文 获取全文

Whole-exome sequencing in pediatrics: parents' considerations toward return of unsolicited findings for their child 由 Cornelis, Candice, Tibben, Aad, Dondorp, Wybo, van Haelst, Mieke, Bredenoord, Annelien L, Knoers, Nine, Düwell, Marcus, Bolt, Ineke, van Summeren, Marieke

获取全文 获取全文 获取全文

Three‐dimensional facial morphology in Cantú syndrome 由 Roessler, Helen I., Shields, Kathleen, Grange, Dorothy K., Knoers, Nine V.A.M., van Haaften, Gijs, Hammond, Peter, van Haelst, Mieke M.

获取全文 获取全文 获取全文

Clinical utility gene card for: Cantú syndrome 由 Kirk, Edwin P, Scurr, Ingrid, van Haaften, Gijs, van Haelst, Mieke M, Nichols, Colin G, Williams, Maggie, Smithson, Sarah F, Grange, Dorothy K

获取全文 获取全文 获取全文

Second case of Bardet–Biedl syndrome caused by biallelic variants in IFT74 由 Kleinendorst, Lotte, Alsters, Sanne I. M., Abawi, Ozair, Waisfisz, Quinten, Boon, Elles M. J., van den Akker, Erica L. T., van Haelst, Mieke M.

获取全文 获取全文 获取全文

Personalized medicine for rare neurogenetic disorders: can we make it happen? 由 van Eeghen, Agnies M., Bruining, Hilgo, Wolf, Nicole I., Bergen, Arthur A., Houtkooper, Riekelt H., van Haelst, Mieke M., van Karnebeek, Clara D.

获取全文 获取全文 获取全文

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders 由 Tessadori, Federico, Roessler, Helen I., Savelberg, Sanne M. C., Chocron, Sonja, Kamel, Sarah M., Duran, Karen J., van Haelst, Mieke M., van Haaften, Gijs, Bakkers, Jeroen

获取全文 获取全文 获取全文

Extensive Phenotyping for Potential Weight-Inducing Factors in an Outpatient Population with Obesity 由 Savas, Mesut, Wester, Vincent L., Visser, Jenny A., Kleinendorst, Lotte, van der Zwaag, Bert, van Haelst, Mieke M., van den Akker, Erica L.T., van Rossum, Elisabeth F.C.

获取全文 获取全文 获取全文

A comprehensive diagnostic approach to detect underlying causes of obesity in adults 由 van der Valk, Eline S., van den Akker, Erica L.T., Savas, Mesut, Kleinendorst, Lotte, Visser, Jenny A., Van Haelst, Mieke M., Sharma, Arya M., van Rossum, Elisabeth F.C.

获取全文 获取全文 获取全文

Behavioral and cognitive functioning in individuals with Cantú syndrome 由 Roessler, Helen I., van der Heuvel, Lieke M., Shields, Kathleen, Guilliams, Kristin P., Knoers, Nine V.A.M., van Haaften, Gijs, Grange, Dorothy K., van Haelst, Mieke M.

获取全文 获取全文 获取全文

Clinical and community genetics services in the Dutch Caribbean 由 Verberne, Eline A., Ecury-Goossen, Ginette M., Manshande, Meindert E., Ponson-Wever, Maria, de Vroomen, Maartje, Tilanus, Martijn, Mannens, Marcel M. A. M., Henneman, Lidewij, van Haelst, Mieke M.

获取全文 获取全文 获取全文

Genetic diagnosis for rare diseases in the Dutch Caribbean: a qualitative study on the experiences and associated needs of parents 由 Verberne, Eline A., van den Heuvel, Lieke M., Ponson-Wever, Maria, de Vroomen, Maartje, Manshande, Meindert E., Faries, Sonja, Ecury-Goossen, Ginette M., Henneman, Lidewij, van Haelst, Mieke M.

获取全文 获取全文 获取全文