Müllerian Agenesis in a patient with Rubinstein-Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways - Journal of Pediatric and Adolescent Gynecology
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Calaméo - Embryo and Fetal Pathology
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
Dima Qu'd's research works Cincinnati Children's Hospital Medical Center, Ohio (CCHMC) and other places
THE 59TH ANNUAL MEETING OF THE JAPANESE TERATOLOGY SOCIETY THE 13TH WORLD CONGRESS OF THE INTERNATIONAL CLEFT LIP AND PALATE FOUNDATION – CLEFT 2019‐ - 2019 - Congenital Anomalies - Wiley Online Library
Dima Qu'd's research works Cincinnati Children's Hospital Medical Center, Ohio (CCHMC) and other places
PDF) AN N TERMINAL KAT6B MISSENSE VARIANT CAUSES AMILD ROBERTS SYNDROME PHENOTYPE, AND BRINGSINTO FOCUS PHENOTYPIC OVERLAPS ACROSS THELYSINE ACETYL TRANSFERASE SYNDROMES
Dr. Christine Pennesi, MD, Ann Arbor, MI, Obstetrician-Gynecologist
Disorders of Sex Development - ScienceDirect
Bioquimica, PDF, Endocrinology
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome - Menke - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library
SPR 2013 SpringerLink
Disorders of Sex Development - ScienceDirect
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
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