Found: 17
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Fisher-Mendel data.
- Published in:
- Journal of Heredity, 1987, v. 78, n. 5, p. 344, doi. 10.1093/oxfordjournals.jhered.a110411
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- Publication type:
- Article
CASK pathogenic variant which expands the clinical spectrum for MICPCH syndrome in an adult patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63722
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- Publication type:
- Article
Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1663, doi. 10.1002/ajmg.a.38204
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- Publication type:
- Article
Incidence of abdominal wall defects.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 7, p. 690, doi. 10.1002/(SICI)1097-0223(199907)19:7<690::AID-PD598>3.0.CO;2-X
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- Publication type:
- Article
45,X/46,XX/47,XXX phenotype.
- Published in:
- Prenatal Diagnosis, 1993, v. 13, n. 12, p. 1165, doi. 10.1002/pd.1970131219
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- Publication type:
- Article
SHORTER NOTICES.
- Published in:
- 1978
- By:
- Publication type:
- Book Review
WHICH WAY FOR CATHOLIC PENTECOSTALS? (Book Review).
- Published in:
- 1977
- By:
- Publication type:
- Book Review
BIOETHICAL DECISION-MAKING (Book Review).
- Published in:
- 1976
- By:
- Publication type:
- Book Review
TOWARD THE FUTURE (Book Review).
- Published in:
- 1975
- By:
- Publication type:
- Book Review
A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 594, doi. 10.1038/ejhg.2013.207
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- Publication type:
- Article
Diagnosis of twin to twin transfusion syndrome at 18 weeks of gestation.
- Published in:
- 1983
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- Publication type:
- journal article
Central and peripheral dysmyelination in a 3‐year‐old girl with ring chromosome 18.
- Published in:
- Clinical Case Reports, 2019, v. 7, n. 11, p. 2087, doi. 10.1002/ccr3.2426
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- Publication type:
- Article
Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 2, p. 259, doi. 10.1111/cge.13874
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- Publication type:
- Article
Gastrointestinal Manifestations in Diploid/Triploid Mixoploidy.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 2015, v. 60, n. 6, p. 799, doi. 10.1097/MPG.0000000000000622
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- Publication type:
- Article
Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1336, doi. 10.1002/ajmg.a.34049
- By:
- Publication type:
- Article
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.
- Published in:
- Human Mutation, 2016, v. 37, n. 4, p. 354, doi. 10.1002/humu.22952
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- Publication type:
- Article
Aberrant Nuclear Projections of Neutrophils in Trisomy 13.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2004, v. 128, n. 2, p. 243, doi. 10.5858/2004-128-243-anponi
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- Publication type:
- Article