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Items: 1 to 20 of 13170

1.

Phenotypic Delineation of the Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis (RAMSVPS) Syndrome.

Alkuraya H, Patel N, Ibrahim N, Al Ghamdi B, Alsulaiman SM, Nowilaty SR, Abboud E, Alturki R, Alkharashi A, Eyaid W, Almasseri Z, Alzaidan H, Alotaibi MD, Abu El-Asrar AM, Alamro B, Helaby R, Elshaer A, Almontashiri NAM, Al-Hussaini AA, Alkuraya FS.

Clin Genet. 2019 Nov 15. doi: 10.1111/cge.13676. [Epub ahead of print]

PMID:
31730227
2.

Exercise and Cardiovascular Risk among Masters Athletes with Type 2 Diabetes.

Parisi EJ, Baggish AL.

Curr Diab Rep. 2019 Nov 14;19(11):127. doi: 10.1007/s11892-019-1229-z. Review.

PMID:
31728651
3.

Predicting Risk for Adult-Onset Sudden Cardiac Death in the Population.

Bezzina CR, Walsh R, Lahrouchi N.

J Am Coll Cardiol. 2019 Oct 23. pii: S0735-1097(19)37733-2. doi: 10.1016/j.jacc.2019.09.024. [Epub ahead of print] No abstract available.

PMID:
31727423
4.

Rare Genetic Variants Associated With Sudden Cardiac Death in Adults.

Khera AV, Mason-Suares H, Brockman D, Wang M, VanDenburgh MJ, Senol-Cosar O, Patterson C, Newton-Cheh C, Zekavat SM, Pester J, Chasman DI, Kabrhel C, Jensen MK, Manson JE, Gaziano JM, Taylor KD, Sotoodehnia N, Post WS, Rich SS, Rotter JI, Lander ES, Rehm HL, Ng K, Philippakis A, Lebo M, Albert CM, Kathiresan S.

J Am Coll Cardiol. 2019 Oct 23. pii: S0735-1097(19)37731-9. doi: 10.1016/j.jacc.2019.08.1060. [Epub ahead of print]

PMID:
31727422
5.

[Application of Hepatocyte Growth Factor for Amyotrophic Lateral Sclerosis].

Aoki M, Warita H, Kato M, Suzuki N.

Brain Nerve. 2019 Nov;71(11):1253-1260. doi: 10.11477/mf.1416201435. Japanese.

PMID:
31722311
6.

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.

Bauwens M, Storch S, Weisschuh N, Ceuterick-de Groote C, De Rycke R, Brecht G, Sarah J, Coppieters F, Van Coster R, Leroy BP, De Baere E.

Clin Genet. 2019 Nov 13. doi: 10.1111/cge.13673. [Epub ahead of print]

PMID:
31721179
7.

Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy.

Rea G, Tirupathi S, Williams J, Clouston P, Morrison PJ.

Cerebellum. 2019 Nov 12. doi: 10.1007/s12311-019-01085-7. [Epub ahead of print]

PMID:
31721007
8.

Mitochondrial somatic mutations and the lack of viral genomic variation in recurrent respiratory papillomatosis.

Hao Y, Ruiz R, Yang L, Neto AG, Amin MR, Kelly D, Achlatis S, Roof S, Bing R, Kannan K, Brown SM, Pei Z, Branski RC.

Sci Rep. 2019 Nov 12;9(1):16625. doi: 10.1038/s41598-019-53148-8.

PMID:
31719597
9.

Ethical Issues in Newborn Sequencing Research: The Case Study of BabySeq.

Ross LF, Clayton EW.

Pediatrics. 2019 Nov 12. pii: e20191031. doi: 10.1542/peds.2019-1031. [Epub ahead of print]

PMID:
31719124
10.

The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype.

Nijmeijer SCM, van den Born LI, Kievit AJA, Stepien KM, Langendonk J, Marchal JP, Roosing S, Wijburg FA, Wagenmakers MAEM.

Orphanet J Rare Dis. 2019 Nov 12;14(1):249. doi: 10.1186/s13023-019-1232-0.

PMID:
31718697
11.

Antinuclear antibodies in infectious diseases.

Im JH, Chung MH, Park YK, Kwon HY, Baek JH, Lee SY, Lee JS.

Infect Dis (Lond). 2019 Nov 12:1-9. doi: 10.1080/23744235.2019.1690676. [Epub ahead of print]

PMID:
31718355
12.

Cognition in older adults with severe to profound sensorineural hearing loss compared to peers with normal hearing for age.

Huber M, Roesch S, Pletzer B, Lukaschyk J, Lesinski-Schiedat A, Illg A.

Int J Audiol. 2019 Nov 13:1-9. doi: 10.1080/14992027.2019.1687947. [Epub ahead of print]

PMID:
31718333
13.

Treatable causes of adult-onset rapid cognitive impairment.

Wang S, Zhang J, Liang J, Song H, Ji X.

Clin Neurol Neurosurg. 2019 Nov 1;187:105575. doi: 10.1016/j.clineuro.2019.105575. [Epub ahead of print]

PMID:
31715517
14.

Deterioration of neuroregenerative plasticity in association with testicular atrophy and dysregulation of the hypothalamic-pituitary-gonadal (HPG) axis in Huntington's disease: A putative role of the Huntingtin gene in steroidogenesis.

Selvaraj K, Manickam N, Kumaran E, Thangadurai K, Elumalai G, Sekar A, Kanjirassery Radhakrishnan R, Kandasamy M.

J Steroid Biochem Mol Biol. 2019 Nov 9:105526. doi: 10.1016/j.jsbmb.2019.105526. [Epub ahead of print] Review.

PMID:
31715317
15.

Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes.

Bakis H, Trimouille A, Vermorel A, Redonnet I, Goizet C, Boulestreau R, Lacombe D, Combe C, Martin-Négrier ML, Rigothier C.

Clin Genet. 2019 Nov 12. doi: 10.1111/cge.13670. [Epub ahead of print]

PMID:
31713837
16.

Elderly-onset Still's Disease Complicated by Macrophage Activation Syndrome: A Case Report and Review of the Literature.

Suda T, Zoshima T, Takeji A, Suzuki Y, Mizushima I, Yamada K, Nakashima A, Yachie A, Kawano M.

Intern Med. 2019 Nov 8. doi: 10.2169/internalmedicine.3727-19. [Epub ahead of print]

17.

Childhood-Onset Schizophrenia and Early-onset Schizophrenia Spectrum Disorders: An Update.

Driver DI, Thomas S, Gogtay N, Rapoport JL.

Child Adolesc Psychiatr Clin N Am. 2020 Jan;29(1):71-90. doi: 10.1016/j.chc.2019.08.017. Review.

PMID:
31708054
18.

Cognition, Social Cognition, and Functional Capacity in Early-Onset Schizophrenia.

Harvey PD, Isner EC.

Child Adolesc Psychiatr Clin N Am. 2020 Jan;29(1):171-182. doi: 10.1016/j.chc.2019.08.008. Epub 2019 Sep 23. Review.

PMID:
31708046
19.

Genetics of Childhood-onset Schizophrenia 2019 Update.

Forsyth JK, Asarnow RF.

Child Adolesc Psychiatr Clin N Am. 2020 Jan;29(1):157-170. doi: 10.1016/j.chc.2019.08.007. Epub 2019 Oct 17. Review.

PMID:
31708045
20.

Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care.

Schorling DC, Pechmann A, Kirschner J.

J Neuromuscul Dis. 2019 Nov 5. doi: 10.3233/JND-190424. [Epub ahead of print]

PMID:
31707373

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