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Author/Creator Brooks, Alice

2. A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome. Issue 11 (5th September 2020)

Authors:
Geerts‐Haages, Amber; Bossuyt, Stijn N. V.; den Besten, Inge; Bruggenwirth, Hennie; van der Burgt, Ineke; Yntema, Helger G.; Punt, A. Mattijs; Brooks, Alice; Elgersma, Ype; Distel, Ben; Valstar, Marlies
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 11(2020)
Page Start:
n/a
Record Type:
Journal Article
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3. TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Issue 4 (1st March 2021)

Authors:
van Woerden, Geeske M.; Bos, Melanie; de Konink, Charlotte; Distel, Ben; Avagliano Trezza, Rossella; Shur, Natasha E.; Barañano, Kristin; Mahida, Sonal; Chassevent, Anna; Schreiber, Allison; Erwin, Angelika L.; Gripp, Karen W.; Rehman, Fatima; Brulleman, Saskia; McCormack, Róisín; de Geus, Gwynna...
Journal:
Human mutation
Issue:
Volume 42:Issue 4(2021)
Page Start:
445
Record Type:
Journal Article
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5. A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome. Issue 11 (5th September 2020)

Authors:
Geerts‐Haages, Amber; Bossuyt, Stijn N. V.; den Besten, Inge; Bruggenwirth, Hennie; van der Burgt, Ineke; Yntema, Helger G.; Punt, A. Mattijs; Brooks, Alice; Elgersma, Ype; Distel, Ben; Valstar, Marlies
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 11(2020)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Phenotypes and genotypes in individuals with SMC1A variants. Issue 8 (26th May 2017)

Authors:
Huisman, Sylvia; Mulder, Paul A.; Redeker, Egbert; Bader, Ingrid; Bisgaard, Anne‐Marie; Brooks, Alice; Cereda, Anna; Cinca, Constanza; Clark, Dinah; Cormier‐Daire, Valerie; Deardorff, Matthew A.; Diderich, Karin; Elting, Mariet; van Essen, Anthonie; FitzPatrick, David; Gervasini, Cristina; Gilles...
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 8(2017)
Page Start:
2108
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

9. AGORA, a data‐ and biobank for birth defects and childhood cancer. Issue 8 (6th May 2016)

Authors:
van Rooij, Iris A.L.M.; van der Zanden, Loes F.M.; Bongers, Ernie M.H.F.; Renkema, Kirsten Y.; Wijers, Charlotte H.W.; Thonissen, Michelle; Dokter, Elisabeth M.J.; Marcelis, Carlo L.M.; de Blaauw, Ivo; Wijnen, Marc H.W.A.; Hoogerbrugge, Peter M.; Bokkerink, Jos P.M.; Schreuder, Michiel F.; Koster...
Journal:
Birth defects research
Issue:
Volume 106:Issue 8(2016)
Page Start:
675
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗