175 results on '"Srichomthong, Chalurmpon"'
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2. Comparative genomics and genome-wide SNPs of endangered Eld’s deer provide breeder selection for inbreeding avoidance
3. Pathogenic variant detection rate by whole exome sequencing in Thai patients with biopsy-proven focal segmental glomerulosclerosis
4. A novel BAG5 variant impairs the ER stress response pathway, causing dilated cardiomyopathy and arrhythmia
5. Long-read Nanopore sequencing identified D4Z4 contractions in patients with facioscapulohumeral muscular dystrophy
6. Unraveling the molecular diagnosis of metaphyseal enchondromatosis with D‐2‐hydroxyglutaric aciduria: A 22‐year quest
7. A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases
8. De novo genome assembly and transcriptome sequencing in foot and mantle tissues of Megaustenia siamensis reveals components of adhesive substances.
9. Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8
10. Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1
11. Comprehensive genome assembly reveals genetic diversity and carcass consumption insights in critically endangered Asian king vultures.
12. A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2
13. Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.
14. NovelBMP1,CRTAP, andSERPINF1variants causing autosomal recessive osteogenesis imperfecta
15. Genome of Varanus salvator macromaculatus (Asian Water Monitor) Reveals Adaptations in the Blood Coagulation and Innate Immune System
16. Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia
17. The most 5′ truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report
18. Long-read amplicon sequencing of the CYP21A2 in 48 Thai patients with steroid 21-hydroxylase deficiency
19. The Thai reference exome (T‐REx) variant database
20. Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3
21. Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene
22. Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I
23. Germline and Somatic DICER1 Mutations in a Pituitary Blastoma Causing Infantile-Onset Cushingʼs Disease
24. Rapid exome sequencing as the first‐tier investigation for diagnosis of acutely and severely ill children and adults in Thailand
25. Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype–Phenotype Correlation of POLG c.3286C>T Variant
26. Whole-Exome Sequencing Solved over 2-Decade Kidney Disease Enigma
27. FOXE1 mutations in Thai patients with oral clefts
28. Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1
29. Long-read Amplicon Sequencing of the CYP21A2in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency
30. Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2
31. Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases
32. Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra
33. TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4
34. Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities
35. Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita
36. Founder effect of the TTTCA repeat insertions in SAMD12causing BAFME1
37. Cole-Carpenter syndrome in a patient from Thailand
38. Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs
39. Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand
40. Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report
41. Novel Mutations, Including a Large Deletion in theARSBGene, Causing Mucopolysaccharidosis Type VI
42. Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report
43. Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita.
44. Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta.
45. MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta
46. Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation inFERMT3
47. A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing
48. Identification of a mitochondrial 12S rRNA A1555G mutation causing aminoglycoside-induced deafness in a large Thai family
49. A Frameshift Mutation in PEN-2 Causes Familial Comedones Syndrome
50. Absent expression of the osteoblast-specific maternally imprinted genes,DLX5andDLX6,causes split hand/split foot malformation type I
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