Works by Knijnenburg, J.

Results: 8

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

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

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

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

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