Saal HM - Search Results

1

Gaucher disease: a prototype for molecular medicine.

Grabowski GA, Saal HM, Wenstrup RJ, Barton NW. Grabowski GA, et al. Among authors: saal hm. Crit Rev Oncol Hematol. 1996 May;23(1):25-55. doi: 10.1016/1040-8428(96)00199-0. Crit Rev Oncol Hematol. 1996. PMID: 8817081 Review. No abstract available.

2

A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia.

Saal HM, Prows CA, Guerreiro I, Donlin M, Knudson L, Sund KL, Chang CF, Brugmann SA, Stottmann RW. Saal HM, et al. Hum Mol Genet. 2015 Jun 15;24(12):3399-409. doi: 10.1093/hmg/ddv088. Epub 2015 Mar 10. Hum Mol Genet. 2015. PMID: 25759469 Free PMC article.

3

Using human sequencing to guide craniofacial research.

Liegel RP, Finnerty E, Blizzard L, DiStasio A, Hufnagel RB, Saal HM, Sund KL, Prows CA, Stottmann RW. Liegel RP, et al. Among authors: saal hm. Genesis. 2019 Jan;57(1):e23259. doi: 10.1002/dvg.23259. Epub 2018 Dec 21. Genesis. 2019. PMID: 30375152 Free PMC article.

4

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. Among authors: saal hm. Birth Defects Res. 2020 Nov;112(19):1733-1737. doi: 10.1002/bdr2.1801. Epub 2020 Sep 15. Birth Defects Res. 2020. PMID: 32935482

5

Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome.

Hopkin RJ, Schorry EK, Bofinger M, Saal HM. Hopkin RJ, et al. Among authors: saal hm. J Pediatr. 2000 Aug;137(2):247-9. doi: 10.1067/mpd.2000.108272. J Pediatr. 2000. PMID: 10931419

6

Ullrich-Turner syndrome and neurofibromatosis-1.

Schorry EK, Lovell AM, Milatovich A, Saal HM. Schorry EK, et al. Among authors: saal hm. Am J Med Genet. 1996 Dec 30;66(4):423-5. doi: 10.1002/(SICI)1096-8628(19961230)66:4<423::AID-AJMG6>3.0.CO;2-L. Am J Med Genet. 1996. PMID: 8989459

7

Contraceptive use and the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation.

Xia YY, Gronwald J, Karlan B, Lubinski J, McCuaig JM, Brooks J, Moller P, Eisen A, Sun S, Senter L, Bordeleau L, Neuhausen SL, Singer CF, Tung N, Foulkes WD, Sun P, Narod SA, Kotsopoulos J; Hereditary Ovarian Cancer Clinical Study Group. Xia YY, et al. Gynecol Oncol. 2022 Mar;164(3):514-521. doi: 10.1016/j.ygyno.2022.01.014. Epub 2022 Jan 19. Gynecol Oncol. 2022. PMID: 35063280

8

Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus.

Kline-Fath BM, Merrow AC Jr, Calvo-Garcia MA, Nagaraj UD, Saal HM. Kline-Fath BM, et al. Among authors: saal hm. Pediatr Radiol. 2018 Jul;48(7):1032-1034. doi: 10.1007/s00247-018-4106-z. Epub 2018 Mar 14. Pediatr Radiol. 2018. PMID: 29541808

9

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

10

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.

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