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recessive

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Bibliographies

15

1 Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

2 Patent landscape of molecular and cellular targeted therapies for recessive dystrophic epidermolysis bullosa.

3 Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity.

4 A method for non-invasive prenatal diagnosis of monogenic autosomal recessive disorders.

5 How does carrier status for recessive disorders influence reproductive decisions? A systematic review of the literature.

6 [Autosomal recessive bestrophinopathy (ARB): a clinical and molecular description of two patients at childhood].

7 Allele dosage–dependent selection of recessive F3’H allele homozygote altered anthocyanin composition in sweetpotato

8 A helitron-induced RabGDIα variant causes quantitative recessive resistance to maize rough dwarf disease.

9 The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.

10 generation of induced pluripotent stem cells (aro-ipsc1-11) from a patient with autosomal recessive osteopetrosis harboring the c.212 + 1g > t mutation in snx10 gene

11 screening of dfnb3 in iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the myth4 domain of the myo15a gene in a linked family

12 autosomal recessive congenital sensorineural hearing loss due to a novel compound heterozygous ptprq mutation in a chinese family

13 A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy

14 A recessive ACTL7A founder variant leads to male infertility due to acrosome detachment in Pakistani Pashtuns.

15 Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.