Source: Eur J Hum GenetGeilswijk, M, Genuardi, M, Woodward, E R, Nightingale, K, Huber, J, Madsen, M G, Liekelema-van der Heij, D, Lisseman, I, Marlé-Ballangé, J, McCarthy, C, Menko, F H, Moorselaar,

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي

Academic Journal

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes

Authors : Awamleh, Zain; Chater-Diehl, Eric; Choufani, Sanaa

Subjects: Human Genome; Genetics; Rare Diseases

Source: European Journal of Human Genetics. 30(6)

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي

Academic Journal

Heterozygous THBS2 pathogenic variant causes Ehlers–Danlos syndrome with prominent vascular features in humans and mice

Authors : Noam Hadar; Omri Porgador; Idan Cohen

Subjects: Male; Adult; 0301 basic medicine

Source: Eur J Hum Genet

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي

Academic Journal

Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature

Authors : Amarens Hoogenboom; Farah A. Falix; Liselot van der Laan

Subjects: Phenotype; De Lange Syndrome; Intellectual Disability

Source: Eur J Hum GenetHoogenboom, A, Falix, F A, van der Laan, L, Kerkhof, J, Alders, M, Sadikovic, B & van Haelst, M M 2024, ' Novel PUF60 variant suggesting an interaction between Verheij and

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي

Academic Journal

Identification of the DNA methylation signature of Mowat-Wilson syndrome

Authors : Caraffi, Stefano Giuseppe; van der Laan, Liselot; Rooney, Kathleen ...

Subjects: Male; 2716 Genetics (clinical); Adolescent

Source: Eur J Hum Genet

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي

Academic Journal

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Authors : Ghosh, Shereen G; Scala, Marcello; Beetz, Christian

Subjects: Biological Sciences; Genetics; Brain Disorders

Source: European Journal of Human Genetics. 29(2)

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي

نتائج البحث

فلترة النتائج

Characterisation of heritable TP53-related cancer syndrome in Sweden: a nationwide study of genotype-phenotype correlations in 90 families

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

Comparing 2D and 3D representations for face-based genetic syndrome diagnosis.

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome

ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes

Heterozygous THBS2 pathogenic variant causes Ehlers–Danlos syndrome with prominent vascular features in humans and mice

Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature

Identification of the DNA methylation signature of Mowat-Wilson syndrome

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

اتصل بنا

اتبع