日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI

口面指综合征VI型的界定和诊断标准

Poretti, Andrea; Vitiello, Giuseppina; Hennekam, Raoul C M; Arrigoni, Filippo; Bertini, Enrico; Borgatti, Renato; Brancati, Francesco; D'Arrigo, Stefano; Faravelli, Francesca; Giordano, Lucio; Huisman, Thierry A G M; Iannicelli, Miriam; Kluger, Gerhard; Kyllerman, Marten; Landgren, Magnus; Lees, Melissa M; Pinelli, Lorenzo; Romaniello, Romina; Scheer, Ianina; Schwarz, Christoph E; Spiegel, Ronen; Tibussek, Daniel; Valente, Enza Maria; Boltshauser, Eugen

Diagnosis and management of glutaric aciduria type I--revised recommendations

戊二酸尿症 I 型的诊断和治疗——修订建议

Kölker, Stefan; Christensen, Ernst; Leonard, James V; Greenberg, Cheryl R; Boneh, Avihu; Burlina, Alberto B; Burlina, Alessandro P; Dixon, Marjorie; Duran, Marinus; García Cazorla, Angels; Goodman, Stephen I; Koeller, David M; Kyllerman, Mårten; Mühlhausen, Chris; Müller, Edith; Okun, Jürgen G; Wilcken, Bridget; Hoffmann, Georg F; Burgard, Peter

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

SLC9A6基因突变会导致X连锁智力低下、小头畸形、癫痫和共济失调,其表型与安格曼综合征相似。

Gilfillan, Gregor D; Selmer, Kaja K; Roxrud, Ingrid; Smith, Raffaella; Kyllerman, Mårten; Eiklid, Kristin; Kroken, Mette; Mattingsdal, Morten; Egeland, Thore; Stenmark, Harald; Sjøholm, Hans; Server, Andres; Samuelsson, Lena; Christianson, Arnold; Tarpey, Patrick; Whibley, Annabel; Stratton, Michael R; Futreal, P Andrew; Teague, Jon; Edkins, Sarah; Gecz, Jozef; Turner, Gillian; Raymond, F Lucy; Schwartz, Charles; Stevenson, Roger E; Undlien, Dag E; Strømme, Petter

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)

利用基于芯片的比较基因组杂交(array-CGH)检测特发性智力低下儿童的染色体不平衡

Schoumans, J; Ruivenkamp, C; Holmberg, E; Kyllerman, M; Anderlid, B-M; Nordenskjöld, M

Acquired toxoplasmosis and acute hemisyndrome in childhood

儿童期获得性弓形虫病和急性半侧瘫痪综合征

Kyllerman, M; Strannegård, O