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11,017 results on '"MICROCEPHALY"'

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1. Mowat-Wilson syndrome presenting with Shone's complex cardiac anomaly

2. Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases

3. Characteristics associated with drug resistant epilepsy in children up to 36 months old with Congenital Zika Syndrome

4. Identifying hidden Zika hotspots in Pernambuco, Brazil: a spatial analysis

5. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability

6. Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome

7. De novo <scp> NUF2 </scp> variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia

8. Access to information on oral hygiene and mothers' practices of children with microcephaly caused by Zika virus

9. The diverse pleiotropic effects of spliceosomal protein <scp>PUF60</scp> : A case series of Verheij syndrome

10. Growth hormone attenuates the brain damage caused by ZIKV infection in mice

11. Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder

12. Maternal Th17 Profile after Zika Virus Infection Is Involved in Congenital Zika Syndrome Development in Children

13. Desenvolvimento alimentar de crianças com microcefalia: estudo descritivo

14. Immunological imbalance in microcephalic children with congenital Zika virus syndrome

15. Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum

16. Unequal burden of Zika-associated microcephaly among populations with public and private healthcare in Salvador, Brazil

17. Mutations inTAF8cause a neurodegenerative disorder

18. TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys

19. Pathogenic variants in CASK : Expanding the genotype–phenotype correlations

20. STAMBP gene mutation causing microcephaly-capillary malformation syndrome: a recognizable developmental and epileptic encephalopathy

21. Intrinsic neural stem cell properties define brain hypersensitivity to genotoxic stress

22. Urological outcomes in children with congenital Zika syndrome: The experience of a cohort in Campina Grande, Brazil

23. Ocular findings of congenital Zika virus infection with microcephaly

24. <scp> COASY </scp> related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum

25. Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay

26. sEVsRVG selectively delivers antiviral siRNA to fetus brain, inhibits ZIKV infection and mitigates ZIKV-induced microcephaly in mouse model

27. Percepção dos fonoaudiólogos sobre alterações miofuncionais orofaciais em sujeitos com Síndrome Congênita pelo Zika Vírus

28. International Adoption of Children with Special Needs in Spain

29. Stem Cell-Based Organoid Models of Neurodevelopmental Disorders

30. Extending the phenotypes associated with <scp> TRIO </scp> gene variants in a cohort of 25 patients and review of the literature

31. The multiple mitotic roles of the ASPM orthologous proteins:Insight into the etiology of ASPM-dependent microcephaly

32. Head Size in Phelan–McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13

33. A novel leaky splice variant in centromere protein J ( CENPJ )‐associated Seckel syndrome

34. Newborn with Microcephaly

35. TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability

36. DNA Replication proteins in primary microcephaly syndromes

37. Identifying possible inaccuracy in reported birth head circumference measurements among infants in the <scp>US</scp> Zika Pregnancy and Infant Registry

38. Resonance assignment and secondary structure of the tandem harmonin homology domains of human RTEL1

39. Characterization of phenotypic range in <scp> DYRK1A </scp> haploinsufficiency syndrome using standardized behavioral measures

40. Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly

41. Expectations of children's mothers with Congenital Zika Syndrome: attributions of governors

42. Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing

43. Clinical Features and Neurodevelopmental Outcomes for Infants with Perinatal Vertical Transmission of Zika Virus, Colombia

44. PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning

45. Microcephaly gene Cenpj regulates axonal growth in cortical neurons through microtubule destabilization

46. Associations between Gestational Weight Gain Adequacy and Neonatal Outcomes in Tanzania

47. Expression Analyses of Cep152, a Responsible Gene Product for Autosomal Recessive Primary Microcephaly, during Mouse Brain Development

48. The third patient with Tsukahara-Azuno-Kaiji syndrome with type A1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss

49. The Development and Evaluation of the Nutritional Risk Screening Tool for Preterm Infants from Birth to Corrected Age Four Months Old: A Pilot Study

50. Mettl5 mediated 18S rRNA N6-methyladenosine (m6A) modification controls stem cell fate determination and neural function

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