122 related articles for article (PubMed ID: 24291219)
1. Phenotype-genotype complexities: opening DOORS.
Berkovic SF; Gecz J
Lancet Neurol; 2014 Jan; 13(1):24-5. PubMed ID: 24291219
[No Abstract] [Full Text] [Related]
2. Applications of next-generation whole exome sequencing.
Harding KE; Robertson NP
J Neurol; 2014 Jun; 261(6):1244-6. PubMed ID: 24838538
[No Abstract] [Full Text] [Related]
3. The genetic basis of DOORS syndrome: an exome-sequencing study.
Campeau PM; Kasperaviciute D; Lu JT; Burrage LC; Kim C; Hori M; Powell BR; Stewart F; Félix TM; van den Ende J; Wisniewska M; Kayserili H; Rump P; Nampoothiri S; Aftimos S; Mey A; Nair LD; Begleiter ML; De Bie I; Meenakshi G; Murray ML; Repetto GM; Golabi M; Blair E; Male A; Giuliano F; Kariminejad A; Newman WG; Bhaskar SS; Dickerson JE; Kerr B; Banka S; Giltay JC; Wieczorek D; Tostevin A; Wiszniewska J; Cheung SW; Hennekam RC; Gibbs RA; Lee BH; Sisodiya SM
Lancet Neurol; 2014 Jan; 13(1):44-58. PubMed ID: 24291220
[TBL] [Abstract][Full Text] [Related]
4. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.
Campeau PM; Hennekam RC;
Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):327-32. PubMed ID: 25169651
[TBL] [Abstract][Full Text] [Related]
5. Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.
Lozano R; Herman K; Rothfuss M; Rieger H; Bayrak-Toydemir P; Aprile D; Fruscione F; Zara F; Fassio A
Am J Med Genet A; 2016 Dec; 170(12):3207-3214. PubMed ID: 27541164
[TBL] [Abstract][Full Text] [Related]
6. The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons.
Finelli MJ; Aprile D; Castroflorio E; Jeans A; Moschetta M; Chessum L; Degiacomi MT; Grasegger J; Lupien-Meilleur A; Bassett A; Rossignol E; Campeau PM; Bowl MR; Benfenati F; Fassio A; Oliver PL
Hum Mol Genet; 2019 Feb; 28(4):584-597. PubMed ID: 30335140
[TBL] [Abstract][Full Text] [Related]
7. PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
Salian S; Benkerroum H; Nguyen TTM; Nampoothiri S; Kinoshita T; Félix TM; Stewart F; Sisodiya SM; Murakami Y; Campeau PM
Hum Genet; 2021 Jun; 140(6):879-884. PubMed ID: 33386993
[TBL] [Abstract][Full Text] [Related]
8. Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case.
Lestner JM; Chong WK; Offiiah A; Kefas J; Vandersteen AM
Clin Dysmorphol; 2012 Jul; 21(3):152-154. PubMed ID: 22473152
[No Abstract] [Full Text] [Related]
9. Opening the doors of the mental hospital to the public.
BIGELOW N
Ment Hyg; 1949 Jul; 33(3):366-75. PubMed ID: 18132850
[No Abstract] [Full Text] [Related]
10. Unresolved questions regarding human hereditary deafness.
Rehman AU; Friedman TB; Griffith AJ
Oral Dis; 2017 Jul; 23(5):551-558. PubMed ID: 27259978
[TBL] [Abstract][Full Text] [Related]
11. Opening the Doors of Parasitology Journals to Other Symbionts.
Jovani R; Doña J; Del Mar Labrador M; Serrano D
Trends Parasitol; 2017 Aug; 33(8):578-579. PubMed ID: 28545979
[No Abstract] [Full Text] [Related]
12. The doors will be opened.
SHAY HL
Hosp Manage; 1956 Mar; 81(3):50-3. PubMed ID: 13285850
[No Abstract] [Full Text] [Related]
13. [Schinzel-Giedion syndrome: a new mutation in SETBP1].
López-González V; Domingo-Jiménez MR; Burglen L; Ballesta-Martínez MJ; Whalen S; Piñero-Fernández JA; Guillén-Navarro E
An Pediatr (Barc); 2015 Jan; 82(1):e12-6. PubMed ID: 25082129
[TBL] [Abstract][Full Text] [Related]
14. Doors to education are open.
ROWNTREE JI
Mod Hosp; 1956 Aug; 87(2):130; passim. PubMed ID: 13348511
[No Abstract] [Full Text] [Related]
15. Mental hospitals with open doors.
KOLTES JA
Am J Psychiatry; 1956 Sep; 113(3):250-3. PubMed ID: 13354790
[No Abstract] [Full Text] [Related]
16. Understanding opens doors.
ROOD AC
Hospitals; 1955 Aug; 29(8, Part 1):70-1. PubMed ID: 13242100
[No Abstract] [Full Text] [Related]
17. Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.
Takeuchi A; Okamoto N; Fujinaga S; Morita H; Shimizu J; Akiyama T; Ninomiya S; Takanashi J; Kubo T
Eur J Med Genet; 2015 Aug; 58(8):369-71. PubMed ID: 26096993
[TBL] [Abstract][Full Text] [Related]
18. Open doors.
ELLIS MC
Can Nurse; 1957 Nov; 53(11):993-6. PubMed ID: 13479859
[No Abstract] [Full Text] [Related]
19. Medicine in the out-of doors: ice.
KOWALSKI JM
Ill Med J; 1961 Jan; 119():27-8. PubMed ID: 13753713
[No Abstract] [Full Text] [Related]
20. The psychiatric unit must open the doors.
CAMERON DE
Mod Hosp; 1956 Sep; 87(3):51-4; passim. PubMed ID: 13358623
[No Abstract] [Full Text] [Related]
[Next] [New Search]
