45 results on '"Murray, Jennie"'
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2. Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.
3. MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
4. Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus
5. Expanding the genetics of microcephalic primordial dwarfism
6. Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis
7. Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome
8. Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism
9. Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
10. Additional file 2 of Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium
11. Additional file 3 of Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium
12. Additional file 1 of Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium
13. Additional file 5 of Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium
14. Additional file 4 of Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium
15. A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX
16. Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia
17. UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
18. Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
19. UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1and PALB2
20. Murray and Jackson reply
21. Growth in Individuals With Majewski Osteodysplastic Primordial Dwarfism Type II Caused by Pericentrin Mutations
22. A Novel Nonsense CDK5RAP2 Mutation in a Somali Child With Primary Microcephaly and Sensorineural Hearing Loss
23. Exploring microcephaly and human brain evolution
24. Successful pregnancies in an adult with Meier‐Gorlin syndrome harboring biallelic CDT1 variants
25. DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency
26. DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency
27. Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome
28. Biallelic variants in DNA2 cause microcephalic primordial dwarfism
29. Successful pregnancies in an adult with Meier‐Gorlin syndrome harboring biallelic CDT1 variants.
30. Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.
31. DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency
32. Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
33. A de nova SRCAP Mutation Associated with Floating-Harbor Syndrome
34. Linked-read genome sequencing identifies biallelic pathogenic variants in DONSONas a novel cause of Meier-Gorlin syndrome
35. Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
36. Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
37. Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
38. A de novo SRCAP mutation associated with Floating-Harbor syndrome
39. Murray and Jackson reply
40. An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome
41. Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.
42. Should you keep pregnancy secret for 12 weeks?
43. A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX
44. letters.
45. Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis.
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