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<italic>mTOR</italic> mutations in Smith‐Kingsmore syndrome: Four additional patients and a review.
Published in:
Clinical Genetics, 2018, v. 93, n. 4, p. 762, doi. 10.1111/cge.13135
By:
- Gordo, G.;
- Tenorio, J.;
- Arias, P.;
- Santos‐simarro, F.;
- García‐miñaur, S.;
- Moreno, J. C.;
- Nevado, J.;
- Vallespin, E.;
- Rodriguez‐laguna, L.;
- De Mena, R.;
- Dapia, I.;
- Palomares‐bralo, M.;
- Del Pozo, Á.;
- Ibañez, K.;
- Silla, J. C.;
- Barroso, E.;
- Ruiz‐pérez, V. L.;
- Martinez‐glez, V.;
- Lapunzina, P.
Publication type:
Article
Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.
Published in:
Clinical Genetics, 2017, v. 92, n. 3, p. 350, doi. 10.1111/cge.12965
By:
- Santos‐Simarro, F.;
- Vallespin, E.;
- Pozo, A.;
- Ibañez, K.;
- Silla, J.C.;
- Fernandez, L.;
- Nevado, J.;
- González‐Pecellín, H.;
- Montaño, V.E.F.;
- Martin, R.;
- Alba Valdivia, L.I.;
- García‐Miñaúr, S.;
- Lapunzina, P.;
- Palomares‐Bralo, M.
Publication type:
Article
Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation.
Published in:
Clinical Genetics, 2014, v. 85, n. 4, p. 401, doi. 10.1111/cge.12163
By:
- Amiñoso, C.;
- García‐Miñaúr, S.;
- Martínez, L.;
- Tenorio, J.A.;
- Tovar, J.A.;
- Lapunzina, P.;
- Solera, J.
Publication type:
Article
Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe.
Published in:
Journal of Medical Screening, 2000, v. 7, n. 4, p. 169, doi. 10.1136/jms.7.4.169
By:
- Boyd, P. A.;
- Wellesley, D. G.;
- de Walle, H. E. K.;
- Tenconi, R.;
- Garcia-Minaur, S.;
- Zandwijken, G. R. J.;
- Stoll, C.;
- Clementi, M.
Publication type:
Article
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions.
Published in:
Human Mutation, 2010, v. 31, n. 5, p. E1332, doi. 10.1002/humu.21233
By:
- D'haene, B.;
- Nevado, J.;
- Pugeat, M.;
- Pierquin, G.;
- Lowry, R.B.;
- Reardon, W.;
- Delicado, A.;
- García-Miñaur, S.;
- Palomares, M.;
- Courtens, W.;
- Stefanova, M.;
- Wallace, S.;
- Watkins, W.;
- Shelling, A. N.;
- Wieczorek, D.;
- Veitia, R. A.;
- De Paepe, A.;
- Lapunzina, P.;
- De Baere, E.
Publication type:
Article
A randomised controlled trial of a psychoeducational intervention for women at increased risk of breast cancer.
Published in:
British Journal of Cancer, 2004, v. 90, n. 1, p. 41, doi. 10.1038/sj.bjc.6601519
By:
- Appleton, S.;
- Watson, M.;
- Rush, R.;
- Garcia-Minaur, S.;
- Porteous, M.;
- Campbell, J.;
- Anderson, E.;
- Cull, A.
Publication type:
Article
The COVID‐19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers.
Published in:
Journal of Intellectual Disability Research, 2022, v. 66, n. 4, p. 313, doi. 10.1111/jir.12918
By:
- White, L. K.;
- Crowley, T. B.;
- Finucane, B.;
- Garcia‐Minaur, S.;
- Repetto, G. M.;
- van den Bree, M.;
- Fischer, M.;
- Jacquemont, S.;
- Barzilay, R.;
- Maillard, A. M.;
- Donald, K. A.;
- Gur, R. E.;
- Bassett, A. S.;
- Swillen, A.;
- McDonald‐McGinn, D. M.
Publication type:
Article

Found: 7

<italic>mTOR</italic> mutations in Smith‐Kingsmore syndrome: Four additional patients and a review.

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.

Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation.

Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe.

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions.

A randomised controlled trial of a psychoeducational intervention for women at increased risk of breast cancer.

The COVID‐19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers.