Search

Author/Creator Lakeman, Phillis

2. Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant. Issue 2 (28th November 2018)

Authors:
Overwater, Eline; Efrat, Rifka; Barge‐Schaapveld, Daniela Q. C. M.; Lakeman, Phillis; Weiss, Marjan M.; Maugeri, Alessandra; van Tintelen, J. Peter; Houweling, Arjan C.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 2(2019)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Experiences of a High‐Risk Population with Prenatal Hemoglobinopathy Carrier Screening in a Primary Care Setting: a Qualitative Study. Issue 3 (5th October 2017)

Authors:
Holtkamp, Kim C. A.; Lakeman, Phillis; Hader, Hind; Jans, Suze M. J. P.; Hoenderdos, Maria; Playfair, Henna A. M.; Cornel, Martina C.; Peters, Marjolein; Henneman, Lidewij
Journal:
Journal of genetic counseling
Issue:
Volume 27:Issue 3(2018)
Page Start:
635
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review. Issue 11 (12th October 2021)

Authors:
Tjon, Jill K.; Lakeman, Phillis; van Leeuwen, Elisabeth; Waisfisz, Quinten; Weiss, Marjan M.; Tan‐Sindhunata, Gita M. B.; Nikkels, Peter G. J.; van der Voorn, Patrick J. P.; Salomons, Gajja S.; Burchell, George L.; Linskens, Ingeborg H.; van der Knoop, Bloeme J.; de Vries, Johanna I. P.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 9:Issue 11(2021)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans. Issue 11 (7th October 2013)

Authors:
Rutten, Julie W.; Boon, Elles M.J.; Liem, Michael K.; Dauwerse, Johannes G.; Pont, Margot J.; Vollebregt, Ellen; Maat‐Kievit, Anneke J.; Ginjaar, Hendrika B.; Lakeman, Phillis; van, Sjoerd G.; Terwindt, Gisela M.; Lesnik Oberstein, Saskia A.J.
Journal:
Human mutation
Issue:
Volume 34:Issue 11(2013:Nov.)
Page Start:
1486
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans. Issue 11 (7th October 2013)

Authors:
Rutten, Julie W.; Boon, Elles M.J.; Liem, Michael K.; Dauwerse, Johannes G.; Pont, Margot J.; Vollebregt, Ellen; Maat‐Kievit, Anneke J.; Ginjaar, Hendrika B.; Lakeman, Phillis; van Duinen, Sjoerd G.; Terwindt, Gisela M.; Lesnik Oberstein, Saskia A.J.
Journal:
Human mutation
Issue:
Volume 34:Issue 11(2013:Nov.)
Page Start:
1486
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
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. Issue 5 (31st January 2021)

Authors:
Glinton, Kevin E.; Hurst, Anna C. E.; Bowling, Kevin M.; Cristian, Ingrid; Haynes, Devon; Adstamongkonkul, Dusit; Schnappauf, Oskar; Beck, David B.; Brewer, Carole; Parikh, Aditi Shah; Shinde, Deepali N.; Donaldson, Alan; Brautbar, Ariel; Koene, Saskia; van Haeringen, Arie; Piton, Amélie; Capri, ...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 5(2021)
Page Start:
1366
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗