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1.
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Mol Psychiatry
; 26(11): 6125-6148, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34188164
2.
Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Mol Psychiatry
; 26(12): 7852, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34282265
3.
A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly.
Am J Med Genet A
; 167A(11): 2808-16, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26238961
4.
Transplanted bone marrow mononuclear cells and MSCs impart clinical benefit to children with osteogenesis imperfecta through different mechanisms.
Blood
; 120(9): 1933-41, 2012 Aug 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-22829629
5.
Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: case report and review of the literature.
Am J Med Genet A
; 164A(12): 3187-93, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-25257307
6.
Tetrasomy 13q32.2qter due to an apparent inverted duplicated neocentric marker chromosome in an infant with hemangiomas, failure to thrive, laryngomalacia, and tethered cord.
Birth Defects Res A Clin Mol Teratol
; 97(12): 812-5, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24222317
7.
Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.
Am J Med Genet A
; 158A(6): 1411-3, 2012 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-22528146
8.
A strategy for single nucleotide polymorphism analysis of chimerism for somatic cell therapy.
Cytotherapy
; 12(8): 1035-43, 2010 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-20429790
9.
Cell therapy for disorders of bone.
Cytotherapy
; 11(1): 3-17, 2009.
Artículo
en Inglés
| MEDLINE | ID: mdl-19191055
10.
Short-chain acyl-coenzyme A dehydrogenase deficiency.
Mol Genet Metab
; 95(4): 195-200, 2008 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-18977676
11.
Correction of a short cardiac PR interval in a 12-year-old girl with late-onset Pompe disease following enzyme replacement therapy.
Genet Med
; 14(8): 757-8, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22863876
12.
22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring.
Clin Case Rep
; 5(3): 351-356, 2017 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-28265405
13.
Mitochondrial enzyme dysfunction in autism spectrum disorders; a novel biomarker revealed from buccal swab analysis.
Biomark Med
; 9(10): 957-65, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26439018
14.
Fraternal twins with autism, severe cognitive deficit, and epilepsy: diagnostic role of chromosomal microarray analysis.
Semin Pediatr Neurol
; 21(2): 167-71, 2014 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25149956
15.
Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening.
Mol Genet Metab
; 95(4): 241-2, 2008 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-18951053
16.
Mitochondrial dysfunction in autism.
Semin Pediatr Neurol
; 20(3): 163-75, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24331358
17.
Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family.
JIMD Rep
; 11: 149-63, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23733603
18.
Use of Medicare claims data to measure county-level variation in breast carcinoma incidence and mammography rates.
Cancer Detect Prev
; 26(3): 197-202, 2002.
Artículo
en Inglés
| MEDLINE | ID: mdl-12269766
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