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Pubblicazioni
AMERICAN JOURNAL OF HUMAN GENETICS
Rivista
Codice:
E007642
ISSN:
0002-9297
Dati Generali
Dati Generali
Pubblicazioni (16)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
Articolo
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
Articolo
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
Articolo
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.
Articolo
Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus.
Articolo
Human homologue sequences to the drosophila dishevelled segment-polarity gene are deleted in the Di George Syndrome
Articolo
Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos
Articolo
Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial
Articolo
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
Articolo
Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome
Articolo
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.
Articolo
Mutations in the NHEJ component XRCC4 cause primordial dwarfism
Articolo
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
Articolo
On the reproductive capabilities of aneuploid human preimplantation embryos
Articolo
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
Articolo
Widening of a Y-chromosome interval 6 deletion transmitted from a father to his infertile son accounts for an oligozoospermia critical region distal to RBM1 and DAZ genes
Articolo
No Results Found
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