Found: 21
Select item for more details and to access through your institution.
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/ foot malformation with or without long bone deficiency and Gollop-Wolfgang complex
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 125, doi. 10.1186/s13023-014-0125-5
- By:
- Publication type:
- Article
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Microdeletion at ESR1 Intron 6 (DEL_6_75504) Is a Susceptibility Factor for Cryptorchidism and Hypospadias.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 10, p. 2550, doi. 10.1210/clinem/dgad187
- By:
- Publication type:
- Article
Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 2, p. 91, doi. 10.1038/jhg.2014.100
- By:
- Publication type:
- Article
Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 5, p. 454, doi. 10.1007/s10038-008-0269-z
- By:
- Publication type:
- Article
A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1612, doi. 10.1002/ajmg.a.62649
- By:
- Publication type:
- Article
Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 157, doi. 10.1002/ajmg.a.37992
- By:
- Publication type:
- Article
Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.
- Published in:
- Nature Genetics, 2008, v. 40, n. 2, p. 237, doi. 10.1038/ng.2007.56
- By:
- Publication type:
- Article
Aromatase Excess Syndrome: Identification of Cryptic Duplications and Deletions Leading to Gain of Function of CYP19A1 and Assessment of Phenotypic Determinants.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 6, p. E1035, doi. 10.1210/jc.2011-0145
- By:
- Publication type:
- Article
<i>TBX1</i> Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0091598
- By:
- Publication type:
- Article
Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 928, doi. 10.1038/ejhg.2012.26
- By:
- Publication type:
- Article
TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis.
- Published in:
- Congenital Anomalies, 2024, v. 64, n. 1, p. 23, doi. 10.1111/cga.12548
- By:
- Publication type:
- Article
Coffin‐Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing.
- Published in:
- Clinical Case Reports, 2020, v. 8, n. 6, p. 1076, doi. 10.1002/ccr3.2826
- By:
- Publication type:
- Article
Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia.
- Published in:
- Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01062-0
- By:
- Publication type:
- Article
Characterization of KMT2A::MATR3 fusion in a patient with acute lymphoblastic leukemia and monitoring of minimal residual disease by nanoplate digital PCR.
- Published in:
- Pediatric Blood & Cancer, 2023, v. 70, n. 4, p. 1, doi. 10.1002/pbc.30120
- By:
- Publication type:
- Article
Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation.
- Published in:
- Endocrine Journal, 2021, v. 68, n. 5, p. 605, doi. 10.1507/endocrj.ej20-0706
- By:
- Publication type:
- Article
A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency.
- Published in:
- Endocrine Journal, 2013, v. 60, n. 7, p. 855, doi. 10.1507/endocrj.ej13-0024
- By:
- Publication type:
- Article
A 68-Year-Old Phenotypically Male Patient with 21-Hydroxylase Deficiency and Concomitant Adrenocortical Neoplasm Producing Testosterone and Cortisol.
- Published in:
- Tohoku Journal of Experimental Medicine, 2013, v. 230, n. 6, p. 75, doi. 10.1620/tjem.231.75
- By:
- Publication type:
- Article
Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review.
- Published in:
- Clinical Pediatric Endocrinology, 2022, v. 31, n. 3, p. 172, doi. 10.1297/cpe.2022-0020
- By:
- Publication type:
- Article
The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2: Hierarchical Interaction and Distinct Functional Properties as Imprinting Control Centers.
- Published in:
- PLoS Genetics, 2010, v. 6, n. 6, p. 1, doi. 10.1371/journal.pgen.1000992
- By:
- Publication type:
- Article
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.
- Published in:
- Clinical Endocrinology, 2014, v. 80, n. 5, p. 706, doi. 10.1111/cen.12379
- By:
- Publication type:
- Article