Saal HM - Search Results

1

Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome.

Blough RI, Petrij F, Dauwerse JG, Milatovich-Cherry A, Weiss L, Saal HM, Rubinstein JH. Blough RI, et al. Among authors: saal hm. Am J Med Genet. 2000 Jan 3;90(1):29-34. doi: 10.1002/(sici)1096-8628(20000103)90:1<29::aid-ajmg6>3.0.co;2-z. Am J Med Genet. 2000. PMID: 10602114

2

Partial trisomy 1q with growth hormone deficiency and normal intelligence.

Schorry EK, Dietrich KN, Saal HM, Blough RI, Dey S, Chernausek S, Milatovich-Cherry A. Schorry EK, et al. Among authors: saal hm. Am J Med Genet. 1998 May 26;77(4):257-60. Am J Med Genet. 1998. PMID: 9600731

3

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.

Petrij F, Dauwerse HG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, Maaswinkel-Mooy PD, van Karnebeek CD, van Ommen GJ, van Haeringen A, Rubinstein JH, Saal HM, Hennekam RC, Peters DJ, Breuning MH. Petrij F, et al. Among authors: saal hm. J Med Genet. 2000 Mar;37(3):168-76. doi: 10.1136/jmg.37.3.168. J Med Genet. 2000. PMID: 10699051 Free PMC article.

4

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: saal hm. Am J Med Genet. 1997 Jun 27;70(4):377-86. Am J Med Genet. 1997. PMID: 9182778 Review.

5

Loss of the N-myc oncogene in a patient with a small interstitial deletion of the short arm of chromosome 2.

Saal HM, King LJ, Zimmerman D, Johnson RC, Carr AG, Samango-Sprouse CA, Stanley W. Saal HM, et al. Am J Med Genet. 1996 Dec 30;66(4):373-7. doi: 10.1002/(SICI)1096-8628(19961230)66:4<373::AID-AJMG1>3.0.CO;2-M. Am J Med Genet. 1996. PMID: 8989454 Review.

6

Dilated ascending aorta in a child with ring chromosome 21 syndrome.

Rope AF, Hinton RB, Spicer RL, Blough-Pfau R, Saal HM. Rope AF, et al. Among authors: saal hm. Am J Med Genet A. 2004 Oct 1;130A(2):191-5. doi: 10.1002/ajmg.a.30143. Am J Med Genet A. 2004. PMID: 15372526

7

Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history.

Tinkle BT, Walker ME, Blough-Pfau RI, Saal HM, Hopkin RJ. Tinkle BT, et al. Among authors: saal hm. Am J Med Genet A. 2003 Apr 1;118A(1):90-5. doi: 10.1002/ajmg.a.10216. Am J Med Genet A. 2003. PMID: 12605450

8

Interstitial deletion of 13q associated with polymicrogyria.

Kogan JM, Egelhoff JC, Saal HM. Kogan JM, et al. Among authors: saal hm. Am J Med Genet A. 2008 Apr 1;146A(7):910-6. doi: 10.1002/ajmg.a.32188. Am J Med Genet A. 2008. PMID: 18324687

9

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. Among authors: saal hm. 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.

10

A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene.

Hufnagel RB, Zimmerman SL, Krueger LA, Bender PL, Ahmed ZM, Saal HM. Hufnagel RB, et al. Among authors: saal hm. Am J Med Genet A. 2016 Feb;170A(2):487-491. doi: 10.1002/ajmg.a.37441. Epub 2015 Nov 18. Am J Med Genet A. 2016. PMID: 26581443 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

135 results

Search Page