نتائج البحث

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

• Authors : Peron, Angela; D’Arco, Felice; Aldinger, Kimberly A.

Subjects: ratio; disorders; transcription

• Source: European Journal of Human Genetics

تفاصيل العنوان

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

• Authors : Peron, Angela; DArco, Felice; Aldinger, Kimberly

Subjects: Humans; Repressor Proteins; Child

• Source: European Journal of Human Genetics. 33(3)

تفاصيل العنوان

Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/− patients and in foxg1+/− mice

• Authors : Sonia Amabile; Flora M. Vaccarino; Caterina Lo Rizzo ...

Subjects: 0301 basic medicine; Genetics (clinical); Genetics

• Source: European Journal of Human Genetics, vol 24, iss 6

تفاصيل العنوان

POSTERS TOPIC G: GENETIC MAPPING.

Subjects: MEDICAL research; MESSENGER RNA; FETAL brain

• Source: European Journal of Human Genetics; Jul99 Supplement 1, Vol. 7, p128-129, 12p

تفاصيل العنوان

Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction

• Authors : Renée Carroll; Raman Kumar; Marie Shaw

Subjects: Male; 0303 health sciences; Fetal Growth Retardation

• Source: Eur J Hum GenetEuropean journal of human genetics

تفاصيل العنوان

Study of smell and reproductive organs in a mouse model for CHARGE syndrome

• Authors : Bergman, Jorieke E. H.; Bosman, Erika A.; van Ravenswaaij-Arts, Conny M. A.

Subjects: EXPRESSION; Male; Heterozygote

• Source: Eur J Hum Genet

تفاصيل العنوان

Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction

• Authors : Carroll, R.; Kumar, R.; Shaw, M.

• Source: European journal of human genetics

تفاصيل العنوان