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「"Martínez-Frías ML "[Author]」の検索結果

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Wolf-Hirschhorn Syndrome Candidate 1 Is Necessary for Correct Hematopoietic and B Cell Development.

Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date.

European Recommendations for Primary Prevention of Congenital Anomalies: A Joined Effort of EUROCAT and EUROPLAN Projects to Facilitate Inclusion of This Topic in the National Rare Disease Plans.

Interstitial deletion 14q22.3-q23.2: Genotype-phenotype correlation.

Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome.

Patient with disorganization syndrome: Surgical procedures, Pathology, and potential causes.

A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with marden-walker syndrome.

A highly specific coding system for structural chromosomal alterations.

Assessing pre-implantation embryo development in mice provides a rationale for understanding potential adverse effects of ART and PGD procedures.

[The thalidomide experience: review of its effects 50 years later].

Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.

Acardia: Epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research.

Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review.

Conjoined twins: A worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and Research.

Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.

Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype.

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome.

A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations.

Paper 6: EUROCAT member registries: Organization and activities.

Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis.

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