Works in Molecular Genetics & Genomic Medicine, 2020, Vol 8, Issue 7
Results: 41
Issue Information.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.764
- Publication type:
- Article
Clinical and genetic analysis of five Chinese patients with urea cycle disorders.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1301
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- Article
Roles of HOTAIR in lung cancer susceptibility and prognosis.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1299
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- Article
Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1297
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- Article
Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1296
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- Article
β‐Thalassemia pathogenic variants in a cohort of children from the East African coast.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1294
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- Article
The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1292
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- Article
14q12q13.2 microdeletion syndrome: Clinical characterization of a new patient, review of the literature, and further evidence of a candidate region for CNS anomalies.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1289
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- Article
A novel variant of the IFITM5 gene within the 5′‐UTR causes neonatal transverse clavicular fracture: Expanding the genetic spectrum.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1287
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- Article
Children from nuclear families with bad parental relationship could develop tic symptoms.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1286
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- Article
The pedigree analysis and prenatal diagnosis of Hong Kongαα Thalassemia and the sequence analysis of Hong Kongαα Allele.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1285
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- Publication type:
- Article
Loss‐of‐function mutation in TSGA10 causes acephalic spermatozoa phenotype in human.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1284
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- Publication type:
- Article
Acromicric dysplasia with stiff skin syndrome‐like severe cutaneous presentation in an 8‐year‐old boy with a missense FBN1 mutation: Case report and literature review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1282
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- Article
Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1278
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- Article
Patient perspectives on variant reclassification after cancer susceptibility testing.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1275
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- Article
Sequential multiple retinal vein occlusions and transient ischemic attack in MTHFR polymorphism and protein S deficiency.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1273
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- Article
A novel homozygous nonsense ZP1 variant causes human female infertility associated with empty follicle syndrome (EFS).
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1269
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- Article
Human closed and open apex premolar teeth express different toll‐like receptor.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1268
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- Article
Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1265
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- Article
Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicine.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1264
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- Article
CCN6 mutation detection in Chinese patients with progressive pseudo‐rheumatoid dysplasia and identification of four novel mutations.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1261
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- Article
Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1260
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- Article
Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1259
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- Article
Novel mutation in USP26 associated with azoospermia in a Sertoli cell‐only syndrome patient.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1258
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- Article
Clinical performance of DNA‐based prenatal screening using single‐nucleotide polymorphisms approach in Thai women with singleton pregnancy.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1256
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- Article
A novel prognostic model based on multi‐omics features predicts the prognosis of colon cancer patients.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1255
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- Article
Shortened consent forms for genome‐wide sequencing: Parent and provider perspectives.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1254
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- Article
Complicated ventricular arrhythmia and hematologic myeloproliferative disorder in RIT1‐associated Noonan syndrome: Expanding the phenotype and review of the literature.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1253
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- Article
Mutant COMP shapes growth and development of skull and facial structures in mice and humans.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1251
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- Article
Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1250
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- Article
Candidate gene associations reveal sex‐specific Graves' disease risk alleles among Chinese Han populations.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1249
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- Article
Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1244
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- Article
Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1240
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- Article
Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1238
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- Article
Genetic polymorphisms of pharmacogenomic VIP variants in the Dai population from Yunnan province.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1231
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- Article
The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1229
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- Article
Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1228
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- Article
Panel‐based targeted exome sequencing reveals novel candidate susceptibility loci for age‐related cataracts in Chinese Cohort.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1218
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- Article
Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld‐Rieger syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1215
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- Article
Fine‐mapping of ZDHHC2 identifies risk variants for schizophrenia in the Han Chinese population.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1190
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- Article
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 7, p. 1, doi. 10.1002/mgg3.1106
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- Article