Stern HJ - Search Results

1

Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?

Stern HJ, Saal HM, Lee JS, Fain PR, Goldgar DE, Rosenbaum KN, Barker DF. Stern HJ, et al. J Med Genet. 1992 Mar;29(3):184-7. doi: 10.1136/jmg.29.3.184. J Med Genet. 1992. PMID: 1348094 Free PMC article.

2

Prenatal diagnosis of Pallister-Killian syndrome: resolution of cytogenetic ambiguity by use of fluorescent in situ hybridization.

McLean S, Stanley W, Stern H, Fonda-Allen J, Devine G, Ellingham T, Rosenbaum K. McLean S, et al. Prenat Diagn. 1992 Dec;12(12):985-91. doi: 10.1002/pd.1970121203. Prenat Diagn. 1992. PMID: 1287646

3

New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters.

Kaler SG, Garrity AM, Stern HJ, Rosenbaum KN, Orrison BM, Marini JC, Bernardini I, Saal HM. Kaler SG, et al. Among authors: stern hj. Am J Med Genet. 1992 Aug 1;43(6):983-8. doi: 10.1002/ajmg.1320430615. Am J Med Genet. 1992. PMID: 1415349

4

Middle ear disease in childhood achondroplasia.

Berkowitz RG, Grundfast KM, Scott C, Saal H, Stern H, Rosenbaum K. Berkowitz RG, et al. Ear Nose Throat J. 1991 May;70(5):305-8. Ear Nose Throat J. 1991. PMID: 1914954 No abstract available.

5

Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia.

Cunniff C, Jones KL, Saal HM, Stern HJ. Cunniff C, et al. Among authors: stern hj. Pediatrics. 1990 Apr;85(4):499-504. Pediatrics. 1990. PMID: 2314962

6

Variable prenatal appearance of osteogenesis imperfecta.

Bulas DI, Stern HJ, Rosenbaum KN, Fonda JA, Glass RB, Tifft C. Bulas DI, et al. Among authors: stern hj. J Ultrasound Med. 1994 Jun;13(6):419-27. doi: 10.7863/jum.1994.13.6.419. J Ultrasound Med. 1994. PMID: 8083940

7

Neurodevelopmental profile of infants and toddlers with oculo-auriculo-vertebral spectrum and the correlation of prognosis with physical findings.

Cohen MS, Samango-Sprouse CA, Stern HJ, Custer DA, Vaught DR, Saal HM, Tifft CJ, Rosenbaum KN. Cohen MS, et al. Among authors: stern hj. Am J Med Genet. 1995 Dec 18;60(6):535-40. doi: 10.1002/ajmg.1320600610. Am J Med Genet. 1995. PMID: 8825891

8

New insights into the phenotypes of 6q deletions.

Hopkin RJ, Schorry E, Bofinger M, Milatovich A, Stern HJ, Jayne C, Saal HM. Hopkin RJ, et al. Among authors: stern hj. Am J Med Genet. 1997 Jun 27;70(4):377-86. Am J Med Genet. 1997. PMID: 9182778 Review.

9

Lactic acidosis in paediatrics: clinical and laboratory evaluation.

Stern HJ. Stern HJ. Ann Clin Biochem. 1994 Sep;31 ( Pt 5):410-9. doi: 10.1177/000456329403100502. Ann Clin Biochem. 1994. PMID: 7832568 Review. No abstract available.

10

Low utilization of prenatal and pre-implantation genetic diagnosis in Huntington disease - risk discounting in preventive genetics.

Schulman JD, Stern HJ. Schulman JD, et al. Among authors: stern hj. Clin Genet. 2015 Sep;88(3):220-3. doi: 10.1111/cge.12523. Epub 2014 Nov 8. Clin Genet. 2015. PMID: 25307798 Review.

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