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Items: 1 to 20 of 21

1.

Surveillance of ventricular septal defects in Delaware.

Acheson A, Vaidy A, Stomieroski K, Thompson DR, Maiden KM, Ehrenthal DB, Yezdani S, Bhat AM, Locke R, Bartoshesky LE.

Birth Defects Res A Clin Mol Teratol. 2016 Nov;106(11):888-893. doi: 10.1002/bdra.23574.

PMID:
27891775
2.

Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.

Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML 4th, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM, Bonagura VR.

JAMA. 2014 Aug 20;312(7):729-38. doi: 10.1001/jama.2014.9132. Erratum in: JAMA. 2014 Nov 26;312(20):2169. Bonagura, Vincent R [Added].

3.

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.

Del Giudice E, Macca M, Imperati F, D'Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B; Oral-Facial-Digital Type I (OFD1) Collaborative Group.

Orphanet J Rare Dis. 2014 May 10;9:74. doi: 10.1186/1750-1172-9-74.

4.

Technical report: Ethical and policy issues in genetic testing and screening of children.

Ross LF, Saal HM, David KL, Anderson RR; American Academy of Pediatrics; American College of Medical Genetics and Genomics.

Genet Med. 2013 Mar;15(3):234-45. doi: 10.1038/gim.2012.176. Epub 2013 Feb 21. Erratum in: Genet Med. 2013 Apr;15(4):321. Ross, Laine Friedman [corrected to Ross, Lainie Friedman].

PMID:
23429433
5.

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group.

Hum Mutat. 2008 Oct;29(10):1237-46. doi: 10.1002/humu.20792.

PMID:
18546297
6.

Embryonic stem cells--questions.

Bartoshesky LE.

Del Med J. 2005 Jun;77(6):231-2. No abstract available.

PMID:
15999896
7.

Hypothyroxinemia in mechanically ventilated term infants is associated with increased use of rescue therapies.

Lim DJ, Herring MK, Leef KH, Getchell J, Bartoshesky LE, Paul DA.

Pediatrics. 2005 Feb;115(2):406-10.

PMID:
15687450
8.

Newborn screening in Delaware.

Bartoshesky LE.

Del Med J. 2003 May;75(5):181-9. Review.

PMID:
12815929
9.

RC--a case of ornithine transcarbamylase (OTC) deficiency. The most commonly genetically acquired urea cycle defect.

Morra DR, Nadkarni VM, Bartoshesky LE, Finkelstein MS.

Del Med J. 2000 Aug;72(8):349-54. No abstract available.

PMID:
10984978
10.

Micro-deletion detected by fluorescent in situ hybridization for Williams syndrome.

Dewan K, Borgaonkar DS, Bartoshesky LE, Tuttle D.

Del Med J. 1999 Nov;71(11):467-9. No abstract available.

PMID:
10615798
11.

Genetics services in Delaware.

Bartoshesky LE.

Del Med J. 1988 Dec;60(12):718-9. No abstract available.

PMID:
3220166
12.

Segmental spinal dysgenesis.

Scott RM, Wolpert SM, Bartoshesky LE, Zimbler S, Karlin L.

Neurosurgery. 1988 Apr;22(4):739-44.

PMID:
3374785
13.

Dermoid tumors occurring at the site of previous myelomeningocele repair.

Scott RM, Wolpert SM, Bartoshesky LE, Zimbler S, Klauber GT.

J Neurosurg. 1986 Dec;65(6):779-83.

PMID:
3772475
14.

Familial occurrence of malformations possibly attributable to vascular abnormalities.

Bartoshesky LE, Gans B, Goldberg M.

J Pediatr. 1986 Aug;109(2):396. No abstract available.

PMID:
3016224
15.

Congenital hand anomaly: etiology and associated malformations.

Goldberg MJ, Bartoshesky LE.

Hand Clin. 1985 Aug;1(3):405-15. Review.

PMID:
3007544
16.

Seizures in children with meningomyelocele.

Bartoshesky LE, Haller J, Scott RM, Wojick C.

Am J Dis Child. 1985 Apr;139(4):400-2.

PMID:
2579544
17.

Severe cardiac and ophthalmologic malformations in an infant exposed to diphenylhydantoin in utero.

Bartoshesky LE, Bhan I, Nagpaul K, Pashayan H.

Pediatrics. 1982 Feb;69(2):202-3.

PMID:
7058095
18.

New features of thrombocytopenia and absent radius syndrome.

Hays RM, Bartoshesky LE, Feingold M.

Birth Defects Orig Artic Ser. 1982;18(3B):115-21. No abstract available.

PMID:
7139091
19.

Blue rubber bleb nevus syndrome.

McCauley RG, Leonidas JC, Bartoshesky LE.

Radiology. 1979 Nov;133(2):375-7.

PMID:
315078
20.

Fetal alcohol syndrome in child whose parents had stopped drinking.

Scheiner AP, Donovan CM, Bartoshesky LE.

Lancet. 1979 May 19;1(8125):1077-8. No abstract available.

PMID:
86791

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