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「Am J Med Genet[Journal]」の検索結果

22370件中 101件~120件表示    検索結果をPubMedで見る PubMedで見る

Phenotypic expansion of OTUD6B-related syndrome.

An ACVRL1 gene mutation presenting as vein of Galen malformation at prenatal diagnosis.

Human sex chromosome aneuploidies: The hypothalamic-pituitary-gonadal axis.

Brain morphological analysis in PTEN hamartoma tumor syndrome.

Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders.

Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran.

New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry.

Views of adults with 22q11 deletion syndrome on reproductive choices.

40th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2019 Annual Meeting.

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.

A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.

Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature.

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.

Expansion of the phenotype of lateral meningocele syndrome.

Haploinsufficiency of the basic helix-loop-helix transcription factor HAND2 causes congenital heart defects.

The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1-associated anauxetic dysplasia.

Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome.

Expanding the phenotypic and genotypic spectrum of Wiedemann-Steiner syndrome: First patient from India.

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