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Effects of enzyme replacement therapy in thirteen Japanese paediatric patients with Gaucher disease.
- Published in:
- 2001
- By:
- Publication type:
- journal article
A variant of the cerebro-oculo-facio-skeletal syndrome with congenital ectropion and a case of lamellar ichthyosis in the same family.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 3, p. 162, doi. 10.1111/j.1399-0004.1994.tb04014.x
- By:
- Publication type:
- Article
Testicular seminoma in a patient with a constitutively activating mutation of the luteinizing hormone/chorionic gonadotropin receptor.
- Published in:
- European Journal of Endocrinology, 1998, v. 139, n. 1, p. 101, doi. 10.1530/eje.0.1390101
- By:
- Publication type:
- Article
Clinical and genetic studies of five fatal cases of Japanese Gaucher disease type 1.
- Published in:
- Pediatrics International, 1996, v. 38, n. 3, p. 233, doi. 10.1111/j.1442-200X.1996.tb03476.x
- By:
- Publication type:
- Article
MicroRNA-29b/Tet1 regulatory axis epigenetically modulates mesendoderm differentiation in mouse embryonic stem cells.
- Published in:
- Nucleic Acids Research, 2015, v. 43, n. 16, p. 7805, doi. 10.1093/nar/gkv653
- By:
- Publication type:
- Article
The Detection of the Heterozygote and Homozygote in Cystic Fibrosis by Short Term Lymphocyte Culture Studies: A Defect in RNA Methylation.
- Published in:
- Clinical Pediatrics, 1972, v. 11, n. 6, p. 351, doi. 10.1177/000992287201100609
- By:
- Publication type:
- Article
Recurrent Hepatomegaly and Transient Alteration of Liver Functions in an Adolescent with Diabetic Acidosis.
- Published in:
- Clinical Pediatrics, 1970, v. 9, n. 2, p. 122, doi. 10.1177/000992287000900223
- By:
- Publication type:
- Article
Asymptomatic Lead Poisoning in 85 Chicago Children.
- Published in:
- Clinical Pediatrics, 1970, v. 9, n. 1, p. 9, doi. 10.1177/000992287000900104
- By:
- Publication type:
- Article
Barakat syndrome revisited.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1341, doi. 10.1002/ajmg.a.38693
- By:
- Publication type:
- Article
The autistic brain in the context of normal neurodevelopment.
- Published in:
- Frontiers in Neuroanatomy, 2015, v. 9, p. 1, doi. 10.3389/fnana.2015.00115
- By:
- Publication type:
- Article
Generation of fertile sperm in a culture dish: clinical implications.
- Published in:
- Asian Journal of Andrology, 2011, v. 13, n. 4, p. 618, doi. 10.1038/aja.2011.52
- By:
- Publication type:
- Article
Preface.
- Published in:
- 2008
- By:
- Publication type:
- Other
Expression Profiling of Autism Candidate Genes during Human Brain Development Implicates Central Immune Signaling Pathways.
- Published in:
- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024691
- By:
- Publication type:
- Article
Targeted Disruption of Ing2 Results in Defective Spermatogenesis and Development of Soft-Tissue Sarcomas.
- Published in:
- PLoS ONE, 2010, v. 5, n. 11, p. 1, doi. 10.1371/journal.pone.0015541
- By:
- Publication type:
- Article
Abnormal Zinc Metabolism in Unilateral Maldescended Testes of a Mutant Rat Strain.
- Published in:
- Proceedings of the Society for Experimental Biology & Medicine, 1986, v. 182, n. 4, p. 549, doi. 10.3181/00379727-182-42379
- By:
- Publication type:
- Article
Preface.
- Published in:
- Annals of the New York Academy of Sciences, 2004, v. 1038, n. 1, p. xi, doi. 10.1196/annals.1315.041
- By:
- Publication type:
- Article
The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder.
- Published in:
- Frontiers in Genetics, 2016, p. 1, doi. 10.3389/fgene.2016.00065
- By:
- Publication type:
- Article
GermlncRNA: a unique catalogue of long non-coding RNAs and associated regulations in male germ cell development.
- Published in:
- Database: The Journal of Biological Databases & Curation, 2015, v. 2015, p. 1, doi. 10.1093/database/bav044
- By:
- Publication type:
- Article
Altered glial marker expression in autistic postmortem prefrontal cortex and cerebellum.
- Published in:
- Molecular Autism, 2014, v. 5, n. 1, p. 2, doi. 10.1186/2040-2392-5-3
- By:
- Publication type:
- Article
Sex-biased gene expression in the developing brain: implications for autism spectrum disorders.
- Published in:
- Molecular Autism, 2013, v. 4, n. 1, p. 1, doi. 10.1186/2040-2392-4-10
- By:
- Publication type:
- Article
Kidney abnormalities in Hajdu-Cheney syndrome.
- Published in:
- Pediatric Nephrology, 1996, v. 10, n. 6, p. 712, doi. 10.1007/s004670050196
- By:
- Publication type:
- Article
Cord Sera Antitrypsin Activity and the Respiratory Distress Syndrome.
- Published in:
- Clinical Pediatrics, 1974, v. 13, n. 7, p. 600, doi. 10.1177/000992287401300710
- By:
- Publication type:
- Article
Up-regulation of proliferative and migratory genes in regulatory T cells from patients with metastatic castration-resistant prostate cancer.
- Published in:
- International Journal of Cancer, 2013, v. 133, n. 2, p. 373, doi. 10.1002/ijc.28026
- By:
- Publication type:
- Article
ELEVATED SPERMIDINE AND SPERMINE LEVELS IN THE BLOOD OF PSORIASIS PATIENTS.
- Published in:
- 1975
- By:
- Publication type:
- Report
Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemia.
- Published in:
- Pediatric Blood & Cancer, 2010, v. 54, n. 1, p. 173, doi. 10.1002/pbc.22297
- By:
- Publication type:
- Article
CORTICOTROPHIN INCREASES CEREBRAL POLYAMINE CONTENT.
- Published in:
- Journal of Neurochemistry, 1979, v. 33, n. 5, p. 1067, doi. 10.1111/j.1471-4159.1979.tb05243.x
- By:
- Publication type:
- Article
NEUROCHEMICAL ABNORMALITY IN I-CELL DISEASE: CHEMICAL ANALYSIS AND A POSSIBLE IMPORTANCE OF BETA-GALACTOSIDASE DEFICIENCY.
- Published in:
- Journal of Neurochemistry, 1979, v. 32, n. 2, p. 397, doi. 10.1111/j.1471-4159.1979.tb00363.x
- By:
- Publication type:
- Article
Modulation of microRNA expression in human lung cancer cells by the G9a histone methyltransferase inhibitor BIX01294.
- Published in:
- Oncology Letters, 2014, v. 7, n. 6, p. 1819, doi. 10.3892/ol.2014.2034
- By:
- Publication type:
- Article
A Non-inflammatory Role for Microglia in Autism Spectrum Disorders.
- Published in:
- Frontiers in Neurology, 2016, p. 1, doi. 10.3389/fneur.2016.00009
- By:
- Publication type:
- Article
Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment.
- Published in:
- PLoS ONE, 2019, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0213921
- By:
- Publication type:
- Article
Polymorphisms in the coding exons of the human luteinizing hormone receptor gene.
- Published in:
- Human Mutation, 1998, v. 11, n. 4, p. 333, doi. 10.1002/(SICI)1098-1004(1998)11:4<333::AID-HUMU19>3.0.CO;2-D
- By:
- Publication type:
- Article
Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann-Pick disease type A and B.
- Published in:
- Human Mutation, 1996, v. 7, n. 1, p. 65, doi. 10.1002/(SICI)1098-1004(1996)7:1<65::AID-HUMU10>3.0.CO;2-Q
- By:
- Publication type:
- Article
GonadSAGE: a comprehensive SAGE database for transcript discovery on male embryonic gonad development.
- Published in:
- Bioinformatics, 2010, v. 26, n. 4, p. 585, doi. 10.1093/bioinformatics/btp695
- By:
- Publication type:
- Article
Corrigendum: Genetic correction of Werner syndrome gene reveals impaired pro‐angiogenic function and HGF insufficiency in mesenchymal stem cells.
- Published in:
- Aging Cell, 2020, v. 19, n. 10, p. 1, doi. 10.1111/acel.13227
- By:
- Publication type:
- Article
Genetic correction of Werner syndrome gene reveals impaired pro‐angiogenic function and HGF insufficiency in mesenchymal stem cells.
- Published in:
- Aging Cell, 2020, v. 19, n. 5, p. 1, doi. 10.1111/acel.13116
- By:
- Publication type:
- Article
Apoptosis: Reprogramming and the Fate of Mature Cells.
- Published in:
- ISRN Cell Biology, 2012, p. 1, doi. 10.5402/2012/685852
- By:
- Publication type:
- Article
Editorial: Non-Coding rNas in Neurodevelopmental disorders.
- Published in:
- Frontiers in Neurology, 2017, p. 1, doi. 10.3389/fneur.2017.00629
- By:
- Publication type:
- Article
A supernumerary microchromosome in amniotic cell cultures and talipes equinovarus in a live born female.
- Published in:
- Clinical Genetics, 1984, v. 26, n. 5, p. 477, doi. 10.1111/j.1399-0004.1984.tb01092.x
- By:
- Publication type:
- Article
Silver-Russell syndrome with absence of digits and syndactylism of the fingers.
- Published in:
- Clinical Genetics, 1983, v. 24, n. 6, p. 453, doi. 10.1111/j.1399-0004.1983.tb00103.x
- By:
- Publication type:
- Article
Mucopolysaccharides in osteochondrodysplasias.
- Published in:
- Clinical Genetics, 1979, v. 16, n. 6, p. 376, doi. 10.1111/j.1399-0004.1979.tb01344.x
- By:
- Publication type:
- Article