The Narrative of a Patient with Leptin Receptor Deficiency: Personalized Medicine for a Rare Genetic Obesity Disorder

por Welling, Mila S., Kleinendorst, Lotte, van Haelst, Mieke M., van den Akker, Erica L.T.
Publicado 2023

4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype

por Verberne, Eline A., Dalen Meurs, Lotje, Wolf, Nicole I., van Haelst, Mieke M.
Publicado 2020

Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome

por Kleinendorst, Lotte, van den Heuvel, Lieke M., Henneman, Lidewij, van Haelst, Mieke M.
Publicado 2020

Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency

por Verberne, Eline A., Faries, Sonja, Mannens, Marcel M. A. M., Postma, Alex V., van Haelst, Mieke M.
Publicado 2020

Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

por Coban, Mathew A., Blackburn, Patrick R., Whitelaw, Murray L., van Haelst, Mieke M., Atwal, Paldeep S., Caulfield, Thomas R.
Publicado 2020

Genetic analysis in the bariatric clinic; impact of a PTEN gene mutation

por Cooiman, Mellody I., Kleinendorst, Lotte, van der Zwaag, Bert, Janssen, Ignace M. C., Berends, Frits J., van Haelst, Mieke M.
Publicado 2019

Three‐dimensional facial morphology in Cantú syndrome

por Roessler, Helen I., Shields, Kathleen, Grange, Dorothy K., Knoers, Nine V.A.M., van Haaften, Gijs, Hammond, Peter, van Haelst, Mieke M.
Publicado 2020

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

por Lo-A-Njoe, Shirley, van der Veken, Lars T., Vermont, Clementien, Rafael-Croes, Louise, Keizer, Vincent, Hochstenbach, Ron, Knoers, Nine, van Haelst, Mieke M.
Publicado 2016

Personalized medicine for rare neurogenetic disorders: can we make it happen?

por van Eeghen, Agnies M., Bruining, Hilgo, Wolf, Nicole I., Bergen, Arthur A., Houtkooper, Riekelt H., van Haelst, Mieke M., van Karnebeek, Clara D.
Publicado 2022

Successful naltrexone-bupropion treatment after several treatment failures in a patient with severe monogenic obesity

por Welling, Mila S., Mohseni, Mostafa, van der Valk, Eline S., van Hagen, Johanna M., Burgerhart, Jan Steven, van Haelst, Mieke M., van Rossum, Elisabeth F.C.
Publicado 2023

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders

por 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
Publicado 2018

A comprehensive diagnostic approach to detect underlying causes of obesity in adults

por 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.
Publicado 2019

Clinical and community genetics services in the Dutch Caribbean

por 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.
Publicado 2021

OR14-2 Age of Onset of Obesity and Childhood BMI Trajectories in Rare Genetic Obesity Disorders

por Brandsma, Annelies E, Gaillard, Romy, Kleinendorst, Lotte, van den Akker, Erica L T, van der Voorn, Bibian, van Haelst, Mieke M, van Rossum, Elisabeth F C, Wahab, Rama J, Abawi, Ozair
Publicado 2022

Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders

por Vos, Niels, Oussaada, Sabrina M., Cooiman, Mellody I., Kleinendorst, Lotte, ter Horst, Kasper W., Hazebroek, Eric J., Romijn, Johannes A., Serlie, Mireille J., Mannens, Marcel M. A. M., van Haelst, Mieke M.
Publicado 2020

FRI046 Clinical Phenotyping Of Adults With Genetic Obesity

por Welling, Mila Sofie, Mohseni, Mostafa, Meeusen, Renate E H, Boon, Mariëtte R, de Groot, Cornelis J, van Haelst, Mieke M, Visser, Jenny A, van den Akker, Erica L T, van Rossum, Elisabeth F C
Publicado 2023

Effects of glucagon‐like peptide‐1 analogue treatment in genetic obesity: A case series

por Welling, Mila S., de Groot, Cornelis J., Kleinendorst, Lotte, van der Voorn, Bibian, Burgerhart, Jan Steven, van der Valk, Eline S., van Haelst, Mieke M., van den Akker, Erica L. T., van Rossum, Elisabeth F. C.
Publicado 2021

Resting Energy Expenditure and Body Composition in Children and Adolescents With Genetic, Hypothalamic, Medication-Induced or Multifactorial Severe Obesity

por Abawi, Ozair, Koster, Emma C., Welling, Mila S., Boeters, Sanne C.M., van Rossum, Elisabeth F. C., van Haelst, Mieke M., van der Voorn, Bibian, de Groot, Cornelis J., van den Akker, Erica L. T.
Publicado 2022

RF02 | PSAT110 Resting Energy Expenditure and Body Composition in Children and Adolescents with Genetic, Hypothalamic, Medication-Induced or Multifactorial Severe Obesity

por Abawi, Ozair, Koster, Emma C, Welling, Mila S, Boeters, Sanne C M, van Rossum, Elisabeth F C, van Haelst, Mieke M, van der Voorn, Bibian, de Groot, Cornelis J, van den Akker, Erica L T
Publicado 2022

Effects of Glucagon-Like-Peptide-1 Analogue Treatment in Genetic Obesity

por Welling, Mila Sofie, de Groot, Cornelis J, Kleinendorst, Lotte, van der Voorn, Bibian, Burgerhart, Jan Steven, van der Valk, Eline S, van Haelst, Mieke M, van den Akker, Erica L T, van Rossum, Elisabeth F C
Publicado 2021