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Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Published in:
Human Genetics, 2022, v. 141, n. 1, p. 147, doi. 10.1007/s00439-021-02397-7
By:
- Fallerini, Chiara;
- Picchiotti, Nicola;
- Baldassarri, Margherita;
- Zguro, Kristina;
- Daga, Sergio;
- Fava, Francesca;
- Benetti, Elisa;
- Amitrano, Sara;
- Bruttini, Mirella;
- Palmieri, Maria;
- Croci, Susanna;
- Lista, Mirjam;
- Beligni, Giada;
- Valentino, Floriana;
- Meloni, Ilaria;
- Tanfoni, Marco;
- Minnai, Francesca;
- Colombo, Francesca;
- Cabri, Enrico;
- Fratelli, Maddalena
Publication type:
Article
Differential fates of introns in gene expression due to global alternative splicing.
Published in:
Human Genetics, 2022, v. 141, n. 1, p. 31, doi. 10.1007/s00439-021-02409-6
By:
- Kumari, Anjani;
- Sedehizadeh, Saam;
- Brook, John David;
- Kozlowski, Piotr;
- Wojciechowska, Marzena
Publication type:
Article
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.
Published in:
Human Genetics, 2022, v. 141, n. 1, p. 81, doi. 10.1007/s00439-021-02404-x
By:
- Mir, Ali;
- Almudhry, Montaha;
- Alghamdi, Fouad;
- Albaradie, Raidah;
- Ibrahim, Mona;
- Aldurayhim, Fatimah;
- Alhedaithy, Abdullah;
- Alamr, Mushari;
- Bawazir, Maryam;
- Mohammad, Sahar;
- Abdelhay, Salma;
- Bashir, Shahid;
- Housawi, Yousef
Publication type:
Article
Mitochondrial "dysmorphology" in variant classification.
Published in:
Human Genetics, 2022, v. 141, n. 1, p. 55, doi. 10.1007/s00439-021-02378-w
By:
- Shamseldin, Hanan E.;
- Alhashem, Amal;
- Tabarki, Brahim;
- Abdulwahab, Firdous;
- Hashem, Mais;
- Sougrat, Rachid;
- Alkuraya, Fowzan S.
Publication type:
Article
Retraction Note to: Revisiting the male genetic landscape of China: a multi-center study of almost 38,000 Y-STR haplotypes.
Published in:
2022
By:
- Nothnagel, Michael;
- Fan, Guangyao;
- Guo, Fei;
- He, Yongfeng;
- Hou, Yiping;
- Hu, Shengping;
- Huang, Jiang;
- Jiang, Xianhua;
- Kim, Wook;
- Kim, Kicheol;
- Li, Chengtao;
- Li, Hui;
- Li, Liming;
- Li, Shilin;
- Li, Zhao;
- Liang, Weibo;
- Liu, Chao;
- Lu, Di;
- Luo, Haibo;
- Nie, Shengjie
Publication type:
Correction Notice
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Published in:
Human Genetics, 2022, v. 141, n. 1, p. 65, doi. 10.1007/s00439-021-02383-z
By:
- Coursimault, Juliette;
- Guerrot, Anne-Marie;
- Morrow, Michelle M.;
- Schramm, Catherine;
- Zamora, Francisca Millan;
- Shanmugham, Anita;
- Liu, Shuxi;
- Zou, Fanggeng;
- Bilan, Frédéric;
- Le Guyader, Gwenaël;
- Bruel, Ange-Line;
- Denommé-Pichon, Anne-Sophie;
- Faivre, Laurence;
- Tran Mau-Them, Frédéric;
- Tessarech, Marine;
- Colin, Estelle;
- El Chehadeh, Salima;
- Gérard, Bénédicte;
- Schaefer, Elise;
- Cogne, Benjamin
Publication type:
Article
A review of migraine genetics: gathering genomic and transcriptomic factors.
Published in:
Human Genetics, 2022, v. 141, n. 1, p. 1, doi. 10.1007/s00439-021-02389-7
By:
- Dias, Andreia;
- Mariz, Tiago;
- Sousa, Alda;
- Lemos, Carolina;
- Alves-Ferreira, Miguel
Publication type:
Article
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.
Published in:
Human Genetics, 2022, v. 141, n. 1, p. 101, doi. 10.1007/s00439-021-02406-9
By:
- Al-Hamed, Mohamed H.;
- Kurdi, Wesam;
- Khan, Rubina;
- Tulbah, Maha;
- AlNemer, Maha;
- AlSahan, Nada;
- AlMugbel, Maisoon;
- Rafiullah, Rafiullah;
- Assoum, Mirna;
- Monies, Dorota;
- Shah, Zeeshan;
- Rahbeeni, Zuhair;
- Derar, Nada;
- Hakami, Fahad;
- Almutairi, Gawaher;
- AlOtaibi, Afaf;
- Ali, Wafaa;
- AlShammasi, Amal;
- AlMubarak, Wardah;
- AlDawoud, Samia
Publication type:
Article
ASTL is mutated in female infertility.
Published in:
Human Genetics, 2022, v. 141, n. 1, p. 49, doi. 10.1007/s00439-021-02388-8
By:
- Maddirevula, Sateesh;
- Coskun, Serdar;
- Al-Qahtani, Mashael;
- Aboyousef, Omar;
- Alhassan, Saad;
- Aldeery, Meshael;
- Alkuraya, Fowzan S.
Publication type:
Article
Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.
Published in:
Human Genetics, 2022, v. 141, n. 1, p. 127, doi. 10.1007/s00439-021-02394-w
By:
- Longchamps, R. J.;
- Yang, S. Y.;
- Castellani, C. A.;
- Shi, W.;
- Lane, J.;
- Grove, M. L.;
- Bartz, T. M.;
- Sarnowski, C.;
- Liu, C.;
- Burrows, K.;
- Guyatt, A. L.;
- Gaunt, T. R.;
- Kacprowski, T.;
- Yang, J.;
- De Jager, P. L.;
- Yu, L.;
- Bergman, A.;
- Xia, R.;
- Fornage, M.;
- Feitosa, M. F.
Publication type:
Article
PRNCR1: a long non-coding RNA with a pivotal oncogenic role in cancer.
Published in:
Human Genetics, 2022, v. 141, n. 1, p. 15, doi. 10.1007/s00439-021-02396-8
By:
- Bardhan, Abhishek;
- Banerjee, Anwesha;
- Basu, Keya;
- Pal, Dilip Kumar;
- Ghosh, Amlan
Publication type:
Article

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