Results 201 to 210 of about 362,871 (216)

The X chromosome's influences on the human brain. [PDF]

Sci Adv
Jiang Z, Sullivan PF, Li T, Zhao B, Wang X, Luo T, Huang S, Guan PY, Chen J, Yang Y, Stein JL, Li Y, Liu D, Sun L, Zhu H.   +14 more
europepmc   +1 more source

Navigating an Uninformative Genomic Test Result: A Practical Guide. [PDF]

J Paediatr Child Health
St Clair L, Wong C, Elliot C, Jones KJ, Shah M, Josephi-Taylor S, Sandaradura S, Adès L, Smith J, Sachdev R, Ma A.   +10 more
europepmc   +1 more source

Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings. [PDF]

J Hum Genet
Magee K, McGonigle W, Pressman R, Thorson W, Barbouth D, Borja NA.   +5 more
europepmc   +1 more source

Cytogenomic characterization of mosaic X-ring chromosomes in seventeen patients with Turner syndrome (TS)-42 years of experience at a single-site institution. [PDF]

Sci Rep
Madison A, Applegate C, Stinnett V, Miranda DM, Cross C, Vaught KC, Zou YS, Murry JB.   +7 more
europepmc   +1 more source

Drayer Syndrome due to Chromosome 15q26.3 Deletion: Response to Growth Hormone Treatment. [PDF]

Sisli Etfal Hastan Tip Bul
Dincer BT, Ozdemir EM, Cetincelik U, Ucar A.   +3 more
europepmc   +1 more source

Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations. [PDF]

Ophthalmol Ther
Hall J, Corton M, Fries FN, Obst J, Grünauer-Kloevekorn C, Seitz B, Waizel MDV, Jávorszky E, Tory K, Maka E, Amini M, Suiwal S, Stachon T, Szentmáry N.   +13 more
europepmc   +1 more source

46,XX Testicular Disorder of Sex Development (DSD) Presenting With Male Hypogonadism. [PDF]

JCEM Case Rep
Chin RT, Mok SF.
europepmc   +1 more source

The diagnosis and treatment of disorders of nucleic acid/nucleotide metabolism associated with epilepsy. [PDF]

Acta Epileptol
Shi Y, Wei Z, Feng Y, Gan Y, Li G, Deng Y.   +5 more
europepmc   +1 more source

Genetic Loci Influencing Cue-Reactivity in Heterogeneous Stock Rats. [PDF]

Genes Brain Behav
King CP, Chitre AS, Leal-Gutiérrez JD, Tripi JA, Netzley AH, Horvath AP, Lamparelli AC, George A, Martin C, St Pierre CL, Missfeldt Sanches T, Bimschleger HV, Gao J, Cheng R, Nguyen KM, Holl KL, Polesskaya O, Ishiwari K, Chen H, Robinson TE, Flagel SB, Solberg Woods LC, Palmer AA, Meyer PJ.   +23 more
europepmc   +1 more source

Congenital heart disease presentations in the 15q11.2 microdeletion syndrome. [PDF]

Front Genet
Fifirig CI, Abraham S, Keavney B, Hentges KE.   +3 more
europepmc   +1 more source