Works matching AU Knijnenburg, J.

Results: 8

P16.05: The influence of chromosomal microarray and NIPT on the diagnostic yield in 6,811 high-risk pregnancies without ultrasound anomalies.
Published in:
Ultrasound in Obstetrics & Gynecology, 2017, v. 50, p. 206, doi. 10.1002/uog.18159
By:
- Srebniak, M.I.;
- Knapen, M.;
- Polak, M.;
- Joosten, M.;
- Diderich, K.E.;
- Govaerts, L.;
- Ijcken, W.F.;
- Heydanus, R.;
- Dijkman, A.;
- Toolenaar, T.;
- de Vries, F.A.;
- Knijnenburg, J.;
- Go, A.;
- Galjaard, R.J.;
- Van Opstal, D.
Publication type:
Article
A novel α<sup>0</sup>‐thalassemia deletion in a Brazilian child with Hb H disease: −−<sup>Mococa</sup>.
Published in:
2024
By:
- Soler, A. M.;
- Pedroso, G. A.;
- Geraldo, A. P. M.;
- Albuquerque, D. M.;
- Costa, F. F.;
- Santos, M. N. N.;
- Knijnenburg, J.;
- Harteveld, C. L.;
- Sonati, M. F.;
- da Luz, J. A.
Publication type:
Letter to the Editor
Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.
Published in:
Cytogenetic & Genome Research, 2009, v. 123, n. 1-4, p. 65, doi. 10.1159/000184693
By:
- Goobie, S.;
- Knijnenburg, J.;
- FitzPatrick, D.;
- Sharkey, F. H.;
- Lionel, A. C.;
- Marshall, C. R.;
- Azam, T.;
- Shago, M.;
- K. Chong;
- Mendoza-Londono, R.;
- den Hollander, N. S.;
- Ruivenkamp, C.;
- Maher, E.;
- Tanke, H. J.;
- Szuhai, K.;
- Wintle, R. F.;
- Scherer, S. W.
Publication type:
Article
Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.
Published in:
Cytogenetic & Genome Research, 2006, v. 115, n. 3/4, p. 254, doi. 10.1159/000095922
By:
- Krepischi-Santos, A. C. V.;
- Vianna-Morgante, A. M.;
- Jehee, F. S.;
- Passos-Bueno, M. R.;
- Knijnenburg, J.;
- Szuhai, K.;
- Sloos, W.;
- Mazzeu, J. F.;
- Kok, F.;
- Cheroki, C.;
- Otto, P. A.;
- Mingroni-Netto, R. C.;
- Varela, M.;
- Koiffmann, C.;
- Kim, C. A.;
- Bertola, D. R.;
- Pearson, P. L.;
- Rosenberg, C.
Publication type:
Article
A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient.
Published in:
Cytogenetic & Genome Research, 2006, v. 114, n. 1, p. 89, doi. 10.1159/000091934
By:
- Varela, M. C.;
- Krepischi-Santos, A. C. V.;
- Paz, J. A.;
- Knijnenburg, J.;
- Szuhai, K.;
- Rosenberg, C.;
- Koiffmann, C. P.
Publication type:
Article
Chromosome imbalances in syndromic hearing loss.
Published in:
Clinical Genetics, 2009, v. 76, n. 5, p. 458, doi. 10.1111/j.1399-0004.2009.01276.x
By:
- Catelani, A. L. P. M.;
- Krepischi, A. C. V.;
- Kim, C. A.;
- Kok, F.;
- Otto, P. A.;
- Auricchio, M. T. B. M.;
- Mazzeu, J. F.;
- Uehara, D. T.;
- Costa, S. S.;
- Knijnenburg, J.;
- Tabith Jr., A.;
- Vianna-Morgante, A. M.;
- Mingroni-Netto, R. C.;
- Rosenberg, C.
Publication type:
Article
Fatal Umbilical Cord Strangulation in the Remaining Co-Twin after Selective Foeticide with Radiofrequency Ablation for Twin-Twin Transfusion Syndrome.
Published in:
2019
By:
- Tollenaar, Lisanne S.A.;
- Knijnenburg, Patricia C.J.;
- Wolf, Janina L.;
- Slaghekke, Femke;
- Middeldorp, Johanna M.;
- Haak, Monique C.;
- Klumper, Frans J.C.;
- Oepkes, Dick;
- Lopriore, Enrico;
- Tollenaar, Lisanne S A;
- Knijnenburg, Patricia C J;
- Wolf, Janina L;
- Middeldorp, Johanna M;
- Haak, Monique C;
- Klumper, Frans J C
Publication type:
Case Study
Developing a core outcome set for future infertility research: an international consensus development study† ‡.
Published in:
2020
By:
- Duffy, J M N;
- AlAhwany, H;
- Bhattacharya, S;
- Collura, B;
- Curtis, C;
- Evers, J L H;
- Farquharson, R G;
- Franik, S;
- Giudice, L C;
- Khalaf, Y;
- Knijnenburg, J M L;
- Leeners, B;
- Legro, R S;
- Lensen, S;
- Vazquez-Niebla, J C;
- Mavrelos, D;
- Mol, B W J;
- Niederberger, C;
- Ng, E H Y;
- Otter, A S
Publication type:
journal article