Results 71 to 80 of about 438,378 (164)

NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders. [PDF]

Front Neurosci
Manjunath U, R V, Kulkarni SS, Reddy HN, Anil A, Mishra RK, Iyer GR.   +6 more
europepmc   +1 more source

Kallmann Syndrome in a 30-Year-Old Female With Primary Infertility: A Case Report. [PDF]

Case Rep Obstet Gynecol
Soryadharma A, Ritonga MA, Permadi W.
europepmc   +1 more source

UPDhmm: detecting uniparental disomy from NGS trio data. [PDF]

Bioinformatics
Sevilla-Porras M, Ruiz-Arenas C, Pérez-Jurado LA.   +2 more
europepmc   +1 more source

Likelihoods for a general class of ARGs under the SMC. [PDF]

Genetics
Bisschop G, Kelleher J, Ralph P.
europepmc   +1 more source

A multi-omics analysis of pancreatitis: bridging familial genetics and disease progression. [PDF]

Front Immunol
Li F, Huang JX, Sun WJ, Zeng JQ, Gan KX, Gong B, Ji JM, Chen J, Deng ZH, Xu DL.   +9 more
europepmc   +1 more source

Severe obesity as an oligogenic condition: evidence from 1714 adults seeking treatment in the UK National Health Service. [PDF]

Hum Genomics
Almansoori S, Amin HA, Alsters SI, Handley D, Yiorkas AM, Hashim NAN, Ramzi NH, Bonanomi G, Small P, Purkayastha S, van Haelst M, Walters RG, le Roux CW, Chahal HS, Drenos F, Blakemore AI.   +15 more
europepmc   +1 more source

The Role of Prenatal Neurosonography in Identification of Tubulinopathy-Narrative Review. [PDF]

Life (Basel)
Berbeka K, Stefańska K, Świetlicki A, Filipecka-Tyczka D, Rybak-Krzyszkowska M, Illa M.   +5 more
europepmc   +1 more source

Antagonistic histone post-translational modifications improve the fidelity of epigenetic inheritance - a Bayesian perspective. [PDF]

Epigenetics Chromatin
Prabhu BNB, Soni AN, Pillai SRB, Ramakrishnan N.   +3 more
europepmc   +1 more source

A novel de Novo KCNC1 mutation (c.1147 C > T) presenting with epilepsy and ADHD: a case report and literature review. [PDF]

BMC Neurol
Huang C, Kang Y, Peng R, Zhong H, Zeng N, Zhang L, Chen X, Du S.   +7 more
europepmc   +1 more source

Compound inheritance of EHHADH and MASP1 mutations contributes to nonsyndromic cleft lip: familial analysis and zebrafish models. [PDF]

Biol Open
Swatowska P, Odrzywolski A, Kuźniarz K, Tylzanowski P.   +3 more
europepmc   +1 more source