Keyword Connections

homozygous

Journals

0

No Journal Connected

Research Groups

0

No Research Group Connected

Bibliographies

31

1 Cryopreserved Human Oocytes and Cord Blood Cells Can Produce Somatic Cell Nuclear Transfer-Derived Pluripotent Stem Cells with a Homozygous HLA Type

2 Identification of two cis-encoded HLA-DQ molecules that carry distinct alloantigenic specificities.

3 Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.

4 A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature.

5 Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3.

6 Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3

7 A Homozygous Mutation in the Highly Conserved Tyr60 of the Mature IGF1 Peptide Broadens the Spectrum of IGF1 Deficiency.

8 Whole Exome Sequencing Identifies a Novel Pathogenic Variation [p.(Gly194Valfs*7)] in SLC45A2 in the Homozygous State in Multiple Members of a Family in Southern India Affected with Oculocutaneous Albinism.

9 [Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society].

10 Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1-4 of DRC1 in Japanese patients with recurrent sinopulmonary infection.

11 Successful Treatment Of Homozygous Familial Hypercholesterolemia Using Cascade Filtration Plasmapheresis

12 Comparison of Pediatric Familial Mediterranean Fever Patients Carrying Only E148Q Variant With the Ones Carrying Homozygous Pathogenic Mutations.

13 Generation of two LRRK2 homozygous knockout human induced pluripotent stem cell lines using CRISPR/Cas9.

14 HomozygousCYP17A1mutation (H373L) identified in a 46,XX female with combined 17α-hydroxylase/17,20-lyase deficiency

15 premature coronary artery disease due to homozygous familial hypercholesterolemia in a 12-year-old girl

16 nk cell alloreactivity against kir-ligand-mismatched hla-haploidentical tissue derived from hla haplotype-homozygous ipscs

17 presentation of complex homozygous allele in abca4 gene in a patient with retinitis pigmentosa

18 a unique case of thrombosis in behçet′s disease with methylene tetrahydrofolate reductase homozygous polymorphism and raised homocysteine levels

19 establishment of mui009 – a human induced pluripotent stem cells from a 32 year old male with homozygous β°-thalassemia coinherited with heterozygous α-thalassemia 2

20 pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in gys2

21 recurrent and prolonged infections in a child with a homozygous ifih1 nonsense mutation

22 electrocardiographic study in adult homozygous sickle cell disease patients in lagos, nigeria

23 generation of a gene-corrected isogenic control ipsc line from cystic fibrosis patient-specific ipscs homozygous for p.phe508del mutation mediated by talens and ssodn

24 homozygous familial hypercholesterolemia (le)

25 homozygous pigt mutation lead to multiple congenital anomalies-hypotonia seizures syndrome 3

26 acute splenic sequestration in a pregnant woman with homozygous sickle-cell anemia sequestro esplênico agudo em uma mulher grávida com anemia falciforme homozigótica

27 generation of induced pluripotent stem cells (ipscs) from a hereditary spastic paraplegia patient carrying a homozygous y275x mutation in cyp7b1 (spg5)

28 association of xmn i polymorphism and hemoglobin e haplotypes on postnatal gamma globin gene expression in homozygous hemoglobin e

29 production of viable seeds from the seedling lethal mutant ppi2-2 lacking the attoc159 chloroplast protein import receptor using plastic containers, and characterization of the homozygous mutant progeny

30 Equal proportion of adult male and female homozygous for the 677C ? T mutation in the methylenetetrahydrofolate reductase polymorphism

31 Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson’s disease