Figure 1. [Facial appearance of a girl age 11 years with FHS (SRCAP pathogenic variant p.Arg2444Ter)]. - GeneReviews® - NCBI Bookshelf
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Last updated 21 setembro 2024
Facial appearance of a girl age 11 years with FHS (SRCAP pathogenic variant p.Arg2444Ter)
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance - Lehalle - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library
Language : English. ISBN-13 : 978-0801618956.
ATLAS OF FACE IN GENETIC DISORDERS By Richard M. Goodman & Robert J. Gorlin
L11. Anomalies of Facial Development Part I Flashcards
L11. Anomalies of Facial Development Part I Flashcards
Electrobehavioral phenotype and seizure pharmacosensitivity in a novel mouse model of patient-derived SLC6A1 S295L mutation-associated neurodevelopmental epilepsy
Facial appearance of our cases with variants in HNRNPU. (A-B) Case 1 at
ref 469 Chapter 1 Flashcards
Phenotype of a child with Angelman syndrome born to a woman with Prader–Willi syndrome - Ostergaard - 2015 - American Journal of Medical Genetics Part A - Wiley Online Library
Answered: Lane 1 Standard DNA Marker Lane 2…
L11. Anomalies of Facial Development Part I Flashcards
Chromosome 1p32-p31 deletion syndrome: Prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia
Characterizing the human APOE epsilon 4 knock-in transgene in female and male rats with multimodal magnetic resonance imaging - ScienceDirect
Age-invariant face recognition using gender specific 3D aging modeling
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