238 results on '"de Brouwer, Arjan P M"'
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2. Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder
3. Intellectual disability genomics: current state, pitfalls and future challenges
4. De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
5. De novo and biallelic DEAF1 variants cause a phenotypic spectrum
6. Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
7. Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis
8. SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)
9. Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay
10. Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis
11. Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
12. MissenseMED12variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
13. Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?
14. SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)
15. Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis
16. A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation
17. Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function
18. Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency
19. Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.
20. MED12-Related (Neuro)Developmental Disorders: A Question of Causality
21. Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
22. A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation
23. De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
24. De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus
25. Deletion of the 5′exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome
26. Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability
27. Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB
28. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism
29. Comparison of 12 Reference Genes for Normalization of Gene Expression Levels in Epstein-Barr Virus-Transformed Lymphoblastoid Cell Lines and Fibroblasts
30. Pathogenic Variants in GPC4 Cause Keipert Syndrome
31. Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
32. A de novo variant in the X‐linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient
33. Biallelic GINS2variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis
34. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
35. Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis
36. B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscular dystrophy-dystroglycanopathies
37. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
38. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
39. WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
40. De Novo Mutations In Plxnd1 And Rev3L Cause Mobius Syndrome
41. De novo CLTCvariants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
42. De novo mutations in Plxnd1 and Rev3l cause mobius syndrome
43. Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome.
44. B3GALNT2 mutations associated with nonsyndromic autosomal recessive intellectual disability reveal a lack of genotype- phenotype associations in the muscular dystrophy-dystroglycanopathies.
45. Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome.
46. Phenotypic spectrum associated with a CRADDfounder variant underlying frontotemporal predominant pachygyria in the Finnish population
47. De novo mutations in PLXND1 and REV3L cause Möbius syndrome
48. Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems
49. MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.
50. Involvement of the kinesin family membersKIF4AandKIF5Cin intellectual disability and synaptic function
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