Kathelijn Keymolen

Publication Activity (10 Years)

Years Active: 2024-2024
Publications (10 Years): 9

Top Topics

Intellectual Disability

Top Venues

Human molecular genetics

Prenatal diagnosis

This page only lists publications with an associated author ORCID identifier.

Publications

Nathalie Vanden Eynde, Eve Van den Mooter, Elise Vantroys, Elke De Schutter, Astrid Leus, Kathelijn Keymolen, Boyan Dimitrov, Kim van Berkel
Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus. Prenatal diagnosis 44 (5) (2024)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics 33 (14) (2024)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics 33 (14) (2024)
Nathalie Vanden Eynde, Eve Van den Mooter, Elise Vantroys, Elke De Schutter, Astrid Leus, Kathelijn Keymolen, Boyan Dimitrov, Kim van Berkel
Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus. Prenatal diagnosis 44 (5) (2024)
Nathalie Vanden Eynde, Eve Van den Mooter, Elise Vantroys, Elke De Schutter, Astrid Leus, Kathelijn Keymolen, Boyan Dimitrov, Kim van Berkel
Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus. Prenatal diagnosis 44 (5) (2024)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics 33 (14) (2024)
Nathalie Vanden Eynde, Eve Van den Mooter, Elise Vantroys, Elke De Schutter, Astrid Leus, Kathelijn Keymolen, Boyan Dimitrov, Kim van Berkel
Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus. Prenatal diagnosis (2024)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics 33 (14) (2024)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics (2024)