Search

Author/Creator Williams, Monique

1. A nationwide retrospective observational study of population newborn screening for medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in the Netherlands. Issue 5 (16th May 2019)

Authors:
Jager, Emmalie A.; Kuijpers, Myrthe M.; Bosch, Annet M.; Mulder, Margot F.; Gozalbo, Estela R.; Visser, Gepke; de Vries, Maaike; Williams, Monique; Waterham, Hans R.; van Spronsen, Francjan J.; Schielen, Peter C. J. I.; Derks, Terry G. J.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 5(2019)
Page Start:
890
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation. Issue 2 (26th January 2017)

Authors:
Blackburn, Patrick R.; Williams, Monique; Cousin, Margot A.; Boczek, Nicole J.; Beek, Geoffrey J.; Lomberk, Gwen A.; Urrutia, Raul A.; Babovic‐Vuksanovic, Dusica; Klee, Eric W.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 5:Issue 2(2017)
Page Start:
141
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. An overview of combined D‐2‐ and L‐2‐hydroxyglutaric aciduria: functional analysis of CIC variants. Issue 2 (13th December 2017)

Authors:
Pop, Ana; Williams, Monique; Struys, Eduard A.; Monné, Magnus; Jansen, Erwin E. W.; De Grassi, Anna; Kanhai, Warsha A.; Scarcia, Pasquale; Ojeda, Matilde R. Fernandez; Porcelli, Vito; van Dooren, Silvy J. M.; Lennertz, Pascal; Nota, Benjamin; Abdenur, Jose E.; Coman, David; Das, Anibh Martin; El‐...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 41:Issue 2(2018)
Page Start:
169
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control. Issue 5 (10th April 2017)

Authors:
Peeks, Fabian; Steunenberg, Thomas A. H.; de Boer, Foekje; Rubio‐Gozalbo, M. Estela; Williams, Monique; Burghard, Rob; Rajas, Fabienne; Oosterveer, Maaike H.; Weinstein, David A.; Derks, Terry G. J.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 40:Issue 5(2017)
Page Start:
695
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients. Issue 1 (11th February 2019)

Authors:
Williams, Monique; Valayannopoulos, Vassili; Altassan, Ruqaiah; Chung, Wendy K.; Heijboer, Annemieke C.; Keng, Wei Teik; Lapatto, Risto; McClean, Patricia; Mulder, Margot F.; Tylki‐Szymańska, Anna; Walenkamp, Marie‐Jose E.; Alfadhel, Majid; Alakeel, Hajar; Salomons, Gajja S.; Eyaid, Wafaa; Wameli...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 1(2019)
Page Start:
147
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity. Issue 5 (14th February 2017)

Authors:
Mendes, Marisa I; Smith, Desirée EC; Pop, Ana; Lennertz, Pascal; Fernandez Ojeda, Matilde R; Kanhai, Warsha A; van Dooren, Silvy JM; Anikster, Yair; Barić, Ivo; Boelen, Caroline; Campistol, Jaime; de Boer, Lonneke; Kariminejad, Ariana; Kayserili, Hulya; Roubertie, Agathe; Verbruggen, Krijn T; Via...
Journal:
Human mutation
Issue:
Volume 38:Issue 5(2017)
Page Start:
524
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

8. Correlation between biomarkers of exposure, effect and potential harm in the urine of electronic cigarette users. Issue 1 (19th February 2020)

Authors:
Sakamaki-Ching, Shane; Williams, Monique; Hua, My; Li, Jun; Bates, Steve M; Robinson, Andrew N; Lyons, Timothy W; Goniewicz, Maciej Lukasz; Talbot, Prue
Journal:
BMJ open respiratory research
Issue:
Volume 7:Issue 1(2020)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. Correlation between biomarkers of exposure, effect and potential harm in the urine of electronic cigarette users. Issue 1 (19th February 2020)

Authors:
Sakamaki-Ching, Shane; Williams, Monique; Hua, My; Li, Jun; Bates, Steve M; Robinson, Andrew N; Lyons, Timothy W; Goniewicz, Maciej Lukasz; Talbot, Prue
Journal:
BMJ open respiratory research
Issue:
Volume 7:Issue 1(2020)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

10. Correlation between biomarkers of exposure, effect and potential harm in the urine of electronic cigarette users. Issue 1 (19th February 2020)

Authors:
Sakamaki-Ching, Shane; Williams, Monique; Hua, My; Li, Jun; Bates, Steve M; Robinson, Andrew N; Lyons, Timothy W; Goniewicz, Maciej Lukasz; Talbot, Prue
Journal:
BMJ open respiratory research
Issue:
Volume 7:Issue 1(2020)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗