Genotype‐guided medical treatment of arteriovenous malformation von Polubothu, S.

Volltext

Final congenital melanocytic naevi colour is determined by normal skin colour and unaltered by superficial removal techniques: a longitudinal study von Polubothu, S., Kinsler, V.A.

Volltext

Becker’s nevi are associated with neurological abnormalities von Lopez-Balboa, Pablo, Knöpfel, Nicole, Ramwani, Mitesh, Muwanga-Nanyonjo Ms, Noreen, O’Neill, Claire, Lomas, Debra, Cullup, Thomas, Polubothu, S., Kinsler, Veronica A.

Volltext

A mosaic variant in MAP2K1 is associated with giant naevus spilus‐type congenital melanocytic naevus and melanoma development von Muthiah, S., Polubothu, S., Husain, A., Oliphant, T., Kinsler, V.A., Rajan, N.

Volltext

Does the gene matter? Genotype–phenotype and genotype–outcome associations in congenital melanocytic naevi von Polubothu, S., McGuire, N., Al‐Olabi, L., Baird, W., Bulstrode, N., Chalker, J., Josifova, D., Lomas, D., O'Hara, J., Ong, J., Rampling, D., Stadnik, P., Thomas, A., Wedgeworth, E., Sebire, N.J., Kinsler, V.A.

Volltext

The ethnic profile of patients with birthmarks reveals interaction of germline and postzygotic genetics von Polubothu, S., Kinsler, V.A.

Volltext

Uniparental disomy as a mechanism for CERS3‐mutated autosomal recessive congenital ichthyosis von Polubothu, S., Glover, M., Holder, S.E., Kinsler, V.A.

Volltext

Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome von Polubothu, S., Scott, R.H., Vabres, P., Kinsler, V.A.

Volltext

Dermatological signs lead to discovery of mosaic ACTB variants in segmental odontomaxillary dysplasia von Polubothu, S., Abdin, D., Barysch, M., Thomas, A., Bulstrode, N., Evans, R., Solman, L., Obwegeser, J., Hennekam, R.C., Weibel, L., Calder, A., Di Donato, N., Kinsler, V.A.

Volltext

Withdrawn: Does the gene matter? Genotype‐phenotype and genotype‐outcome associations in congenital melanocytic naevi von Polubothu, S., McGuire, N., Al‐Olabi, L., Baird, W., Bulstrode, N., Chalker, J., Josifova, D., Lomas, D., O'Hara, J., Ong, J., Rampling, D., Stadnik, P., Thomas, A., Wedgeworth, E., Sebire, N.J., Kinsler, V.A.

Volltext

Withdrawn: 基因是否重要?先天性黑素细胞痣的基因型‐表型与基因型结果的相关性 von Polubothu, S., McGuire, N., Al‐Olabi, L., Baird, W., Bulstrode, N., Chalker, J., Josifova, D., Lomas, D., O'Hara, J., Ong, J., Rampling, D., Stadnik, P., Thomas, A., Wedgeworth, E., Sebire, N.J., Kinsler, V.A.

Volltext

Does the gene matter? Genotype‐phenotype and genotype‐outcome associations in congenital melanocytic naevi von Polubothu, S., McGuire, N., Al‐Olabi, L., Baird, W., Bulstrode, N., Chalker, J., Josifova, D., Lomas, D., O'Hara, J., Ong, J., Rampling, D., Stadnik, P., Thomas, A., Wedgeworth, E., Sebire, N.J., Kinsler, V.A.

Volltext

755 Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy von Polubothu, S., Al-Olabi, L., Dowsett, K., Andrews, K., Stadnik, P., Knox, R., Baird, W., Glover, M., Moss, C., Thomas, A., Biesecker, L., Semple, R., Patton, E., Kinsler, V.

Volltext

Extending the spectrum of AKT1 mosaicism: not just the Proteus syndrome von Polubothu, S., Al-Olabi, L., Wilson, L., Chong, W.K., Kinsler, V.A.

Volltext

Does the gene matter? Genotype-phenotype and genotype-outcome associations in congenital melanocytic naevi (vol 15, pg 631, 2020) (Retraction of Vol 15, Pg 631, 2020) von Polubothu, S., McGuire, N., Al-Olabi, L.

Volltext

262 The Role of Cholesterol in Rare Inflammatory Skin Disease von Riachi, M., Polubothu, S., Sauvadet, A., J ellis, Kinsler, V.

Volltext

Outcomes of surgery for laryngotracheal stenosis—The parents perspective von Polubothu, S, Blackmore, K.J, Kubba, H

Volltext

270 In vitro modelling and high-throughput drug screening for sporadic arteriovenous malformations von Michailidis, F.N., Bryant, D., Polubothu, S., Zecchin, D., Jiang, M., Howell, M., Kinsler, V.

Volltext

260 Mosaic BRAF fusions are a recurrent cause of multiple congenital melanocytic naevi von Martin, S. Barberan, Polubothu, S., Bruzos, A., Lopez-Balboa, P., Bulstrode, N., Kelly, G., Kinsler, V.

Volltext

1237 Mosaic PRKCA fusions cause a novel congenital melanocytoma syndrome associated with uveal melanoma von Polubothu, S., Martin, S. Barberan, Bruzos, A., Calonje, E., Sagoo, M., Spence, G., Giehl, K., Kinsler, V.

Volltext