Abell K - Search Results

1

Fetal alcohol spectrum disorders and assessment of maxillary and mandibular arc measurements.

Abell K, May W, May PA, Kalberg W, Hoyme HE, Robinson LK, Manning M, Jones KL, Abdul-Rahman O. Abell K, et al. Am J Med Genet A. 2016 Jul;170(7):1763-71. doi: 10.1002/ajmg.a.37656. Epub 2016 Jun 2. Am J Med Genet A. 2016. PMID: 27253440

2

Pathogenic variant in NFIA associated with subdural hematomas mimicking nonaccidental trauma.

Wongkittichote P, Kondis JS, Peglar LM, Strahle JM, Miller-Thomas M, Abell KB. Wongkittichote P, et al. Among authors: abell kb. Am J Med Genet A. 2022 May;188(5):1538-1544. doi: 10.1002/ajmg.a.62647. Epub 2022 Jan 10. Am J Med Genet A. 2022. PMID: 35006644

3

Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.

Abell K, Hopkin RJ, Bender PL, Jackson F, Smallwood K, Sullivan B, Stottmann RW, Saal HM, Weaver KN. Abell K, et al. Am J Med Genet A. 2021 Feb;185(2):413-423. doi: 10.1002/ajmg.a.61977. Epub 2020 Nov 27. Am J Med Genet A. 2021. PMID: 33247512 Free PMC article.

4

Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States.

Abell K, Chadwell SE, Burrow TA, Becker APP, Bailey L, Steele P, Zhang X, Islas-Ohlmayer M, Bittencourt R, Schwartz IVD, Prada CE. Abell K, et al. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):1052-1059. doi: 10.1002/ajmg.c.31870. Epub 2020 Dec 5. Am J Med Genet C Semin Med Genet. 2020. PMID: 33277783

5

XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing.

Kim A, Abell K, Johnson J, Cizek S, Breech L, Ernst MM, Hopkin RJ, Kennedy K, Stanek J, Strine AC, Rutter MM. Kim A, et al. Among authors: abell k. Pediatrics. 2020 Nov;146(5):e20193302. doi: 10.1542/peds.2019-3302. Epub 2020 Oct 15. Pediatrics. 2020. PMID: 33060256 Free PMC article.

6

Case Report: Is Catatonia a Clinical Feature of the Natural Progression of NLGN2-Related Neurodevelopmental Disorder?

Shillington A, Lamy M, Vawter-Lee M, Erickson C, Saal H, Comoletti D, Abell K. Shillington A, et al. Among authors: abell k. J Autism Dev Disord. 2021 Jan;51(1):371-376. doi: 10.1007/s10803-020-04531-2. J Autism Dev Disord. 2021. PMID: 32405903 No abstract available.

7

Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.

Abell K, Tolusso L, Smith N, Hopkin R, Vawter-Lee M, Habli M, Riddle S, Calvo-Garcia MA, Guan Q, Bierbrauer K, Hwa V, Saal HM. Abell K, et al. Birth Defects Res. 2020 Nov;112(19):1733-1737. doi: 10.1002/bdr2.1801. Epub 2020 Sep 15. Birth Defects Res. 2020. PMID: 32935482

8

Gastric dysmotility and low serum vitamin D levels in patients with gastroparesis.

Kedar A, Nikitina Y, Henry OR, Abell KB, Vedanarayanan V, Griswold ME, Subramony C, Abell TL. Kedar A, et al. Among authors: abell kb, abell tl. Horm Metab Res. 2013 Jan;45(1):47-53. doi: 10.1055/s-0032-1323689. Epub 2012 Sep 6. Horm Metab Res. 2013. PMID: 22956309 Free PMC article.

9

The ataxia-telangiectasia disease protein ATM controls vesicular protein secretion via CHGA and microtubule dynamics via CRMP5.

Reichlmeir M, Duecker RP, Röhrich H, Key J, Schubert R, Abell K, Possemato AP, Stokes MP, Auburger G. Reichlmeir M, et al. Among authors: abell k. Neurobiol Dis. 2024 Dec;203:106756. doi: 10.1016/j.nbd.2024.106756. Epub 2024 Nov 29. Neurobiol Dis. 2024. PMID: 39615799 Free article.

10

Depression in Persons With Epilepsy: Lessons From Case Review.

Abell K, Sit DK, Wisner KL. Abell K, et al. J Clin Psychopharmacol. 2024 May-Jun 01;44(3):272-277. doi: 10.1097/JCP.0000000000001848. J Clin Psychopharmacol. 2024. PMID: 38684049 Review.

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