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A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
Not available
S-EPMC4717212
|
biostudies-literature
Cite
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
Not available
S-EPMC6075543
|
biostudies-literature
Cite
Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant.
Not available
S-EPMC8738766
|
biostudies-literature
Cite
Fibrodysplasia ossificans progressiva: clinical course, genetic mutations and genotype-phenotype correlation.
Not available
S-EPMC4188166
|
biostudies-literature
Cite
Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema.
Not available
S-EPMC6374890
|
biostudies-literature
Cite
"Twitching" and Stiffness in
POLG1
Mutation Carriers: Red Flag or Red Herring?
Not available
S-EPMC6962667
|
biostudies-literature
Cite
Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing.
Not available
S-EPMC4681123
|
biostudies-literature
Cite
Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.
Not available
S-EPMC2749023
|
biostudies-literature
Cite
Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect.
Not available
S-EPMC1180233
|
biostudies-literature
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The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders.
Not available
S-EPMC6224218
|
biostudies-literature
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