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Author/Creator Alders, Mariëlle

1. Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis. (December 2018)

Authors:
Dijk, Tessa; Ferdinandusse, Sacha; Ruiter, Jos; Alders, Mariëlle; Mathijssen, Inge; Parboosingh, Jillian; Innes, A.; Meijers-Heijboer, Hanne; Poll-The, Bwee; Bernier, Francois; Wanders, Ronald; Lamont, Ryan; Baas, Frank
Journal:
European journal of human genetics
Issue:
Volume 26:Number 12(2018)
Page Start:
1752
Record Type:
Journal Article
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2. Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders. Issue 11 (14th August 2017)

Authors:
Sollis, Elliot; Deriziotis, Pelagia; Saitsu, Hirotomo; Miyake, Noriko; Matsumoto, Naomichi; Hoffer, Mariëtte J.V.; Ruivenkamp, Claudia A.L.; Alders, Mariëlle; Okamoto, Nobuhiko; Bijlsma, Emilia K.; Plomp, Astrid S.; Fisher, Simon E.
Journal:
Human mutation
Issue:
Volume 38:Issue 11(2017)
Page Start:
1542
Record Type:
Journal Article
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3. Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean. Issue 6 (7th March 2022)

Authors:
Verberne, Eline A.; Westermann, Jonne M.; de Vries, Tamar I.; Ecury‐Goossen, Ginette M.; Lo‐A‐Njoe, Shirley M.; Manshande, Meindert E.; Faries, Sonja; Veenhuis, Hans D.; Philippi, Patricia; Falix, Farah A.; Rosina‐Angelista, Irsa; Ponson‐Wever, Maria; Rafael‐Croes, Louise; Thorsen, Patricia; Aren...
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 6(2022)
Page Start:
1777
Record Type:
Journal Article
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4. How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques. Issue 4 (22nd May 2022)

Authors:
Wortmann, Saskia B.; Oud, Machteld M.; Alders, Mariëlle; Coene, Karlien L. M.; van der Crabben, Saskia N.; Feichtinger, René G.; Garanto, Alejandro; Hoischen, Alex; Langeveld, Mirjam; Lefeber, Dirk; Mayr, Johannes A.; Ockeloen, Charlotte W.; Prokisch, Holger; Rodenburg, Richard; Waterham, Hans R....
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 4(2022)
Page Start:
663
Record Type:
Journal Article
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6. Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics. Issue 1 (January 2020)

Authors:
Kleinendorst, Lotte; Abawi, Ozair; Hetty J, van der Kamp; Alders, Mariëlle; Hanne E J, Meijers-Heijboer; van Rossum, Elisabeth F C; Erica L T, van den Akker; Mieke M, van Haelst
Journal:
European journal of endocrinology
Issue:
Volume 182:Issue 1(2020)
Page Start:
47
Record Type:
Journal Article
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7. Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics. Issue 1 (January 2020)

Authors:
Kleinendorst, Lotte; Abawi, Ozair; van der Kamp, Hetty J; Alders, Mariëlle; Meijers-Heijboer, Hanne E J; van Rossum, Elisabeth F C; van den Akker, Erica L T; van Haelst, Mieke M
Journal:
European journal of endocrinology
Issue:
Volume 182:Issue 1(2020)
Page Start:
47
Record Type:
Journal Article
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8. Mutations in IRS4 are associated with central hypothyroidism. Issue 10 (30th July 2018)

Authors:
Heinen, Charlotte A; de Vries, Emmely M; Alders, Mariëlle; Bikker, Hennie; Zwaveling-Soonawala, Nitash; van den Akker, Erica L T; Bakker, Boudewijn; Hoorweg-Nijman, Gera; Roelfsema, Ferdinand; Hennekam, Raoul C; Boelen, Anita; van Trotsenburg, A S Paul; Fliers, Eric
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 10(2018)
Page Start:
693
Record Type:
Journal Article
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9. Oral‐facial‐digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum. Issue 5 (3rd April 2017)

Authors:
Bouman, Arjan; Alders, Mariëlle; Oostra, Roelof Jan; van Leeuwen, Elisabeth; Thuijs, Nikki; van der Kevie‐Kersemaekers, Anne‐Marie; van Maarle, Merel
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 5(2017)
Page Start:
1383
Record Type:
Journal Article
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