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Subtle phenotypes of Mowat–Wilson syndrome in a patient with a novel ZEB2 C‐ZF domain variant.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63822
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- Article
Establishment and Characterization of a Novel Pleuropulmonary Blastoma Cell Line.
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- Genes, Chromosomes & Cancer, 2024, v. 63, n. 10, p. 1, doi. 10.1002/gcc.23276
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- Article
Lung disease due to FLNA mutation improved after shunt closure for congenital heart disease.
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- Pediatric Pulmonology, 2021, v. 56, n. 5, p. 1280, doi. 10.1002/ppul.25269
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- Article
Analysis of Gene-Environment Interactions Related to Developmental Disorders.
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- Frontiers in Pharmacology, 2022, v. 13, p. 1, doi. 10.3389/fphar.2022.863664
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- Article
Combination of Miller-Dieker syndrome and VACTERL association causes extremely severe clinical presentation.
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- European Journal of Pediatrics, 2014, v. 173, n. 11, p. 1541, doi. 10.1007/s00431-013-2099-z
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- Article
Proportion of malformations and genetic disorders among cases encountered at a high-care unit in a children's hospital.
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- European Journal of Pediatrics, 2012, v. 171, n. 2, p. 301, doi. 10.1007/s00431-011-1534-2
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- Article
1p36 deletion syndrome with intestinal malrotation and annular pancreas.
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- 2005
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- Publication type:
- Case Study
Submucosal dissection to close wide cleft palate with folded mucoperiosteum for bilateral cleft lip and palate with popliteal pterygium syndrome.
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- 2023
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- Publication type:
- Case Study
Mosaicism of a Truncating Variant of CASK Causes Congenital Heart Disease and Neurodevelopmental Disorder.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 6, p. 517, doi. 10.1159/000524375
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- Article
Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes.
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- Molecular Syndromology, 2022, v. 13, n. 3, p. 221, doi. 10.1159/000520134
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- Article
Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome.
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- Molecular Syndromology, 2022, v. 13, n. 1, p. 75, doi. 10.1159/000517977
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- Publication type:
- Article
A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4.
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- Molecular Syndromology, 2021, v. 12, n. 2, p. 127, doi. 10.1159/000513224
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- Publication type:
- Article
Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions.
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- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0633-1
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- Article
Male with type II autosomal recessive cutis laxa.
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- Clinical Genetics, 1994, v. 45, n. 1, p. 40, doi. 10.1111/j.1399-0004.1994.tb03988.x
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- Article
West Syndrome in a Patient With Schinzel-Giedion Syndrome.
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- Journal of Child Neurology, 2015, v. 30, n. 7, p. 932, doi. 10.1177/0883073814541468
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- Article
CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations.
- Published in:
- eLife, 2017, p. 1, doi. 10.7554/eLife.21114.001
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- Article
Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1364
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- Article
Cantú syndrome with novel pathogenic variant in nucleotide‐binding domain 1 of ABCC9.
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- 2020
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- Publication type:
- Case Study
An efficient genetic test flow for multiple congenital anomalies and intellectual disability.
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- Pediatrics International, 2020, v. 62, n. 5, p. 556, doi. 10.1111/ped.14159
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- Article
Somatic mosaicism of a heterogeneous mutation of ACTA1 in nemaline myopathy.
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- 2019
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- Publication type:
- Case Study
1p36 deletion syndrome associated with Prader–Willi-like phenotype.
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- Pediatrics International, 2010, v. 52, n. 4, p. 547, doi. 10.1111/j.1442-200X.2010.03090.x
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- Article
Gonadal sex cord stromal tumor in a patient with Rubinstein-Taybi syndrome.
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- Pediatrics International, 2002, v. 44, n. 3, p. 330, doi. 10.1046/j.1442-200X.2002.01539.x
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- Publication type:
- Article
A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX.
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- Journal of Human Genetics, 2014, v. 59, n. 7, p. 408, doi. 10.1038/jhg.2014.45
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- Article
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
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- Journal of Human Genetics, 2011, v. 56, n. 10, p. 707, doi. 10.1038/jhg.2011.85
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- Publication type:
- Article
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.
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- Journal of Human Genetics, 2011, v. 56, n. 2, p. 110, doi. 10.1038/jhg.2010.129
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- Article
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
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- Journal of Human Genetics, 2010, v. 55, n. 12, p. 801, doi. 10.1038/jhg.2010.116
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- Article
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
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- Journal of Human Genetics, 2009, v. 54, n. 5, p. 304, doi. 10.1038/jhg.2009.30
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- Article
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
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- Journal of Human Genetics, 2008, v. 53, n. 9, p. 834, doi. 10.1007/s10038-008-0320-0
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- Article
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.
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- Journal of Human Genetics, 2005, v. 50, n. 4, p. 192, doi. 10.1007/s10038-005-0239-7
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- Article
Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature.
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- Journal of Human Genetics, 1999, v. 44, n. 4, p. 219, doi. 10.1007/s100380050147
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- Article
Two siblings with acute necrotizing encephalopathy associated with variants of LARS1.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63803
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- Article
GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63799
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- Article
Noonan syndrome‐like phenotype associated with an ERF frameshift variant.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63652
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- Article
Early‐onset West syndrome with developmental delay associated with a novel KLHL20 variant.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63600
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- Article
A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variant.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 94, doi. 10.1002/ajmg.a.63386
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- Article
PHACES‐like syndrome with TMEM260 compound heterozygous variants.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2215, doi. 10.1002/ajmg.a.63245
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- Article
A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2245, doi. 10.1002/ajmg.a.63229
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- Article
Complex congenital cardiovascular anomaly in a patient with AGO1‐associated disorder.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 882, doi. 10.1002/ajmg.a.63089
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- Article
A novel variant of ARPC4‐related neurodevelopmental disorder.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 893, doi. 10.1002/ajmg.a.63082
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- Article
Further delineation of SET‐related intellectual disability syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1595, doi. 10.1002/ajmg.a.62681
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- Article
Acute lymphoblastic leukemia in a male with Simpson–Golabi–Behmel syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1680, doi. 10.1002/ajmg.a.38664
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- Article
Expansion of the phenotype of Kosaki overgrowth syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2422, doi. 10.1002/ajmg.a.38310
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- Publication type:
- Article
Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2201, doi. 10.1002/ajmg.a.38313
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- Article
A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2223, doi. 10.1002/ajmg.a.37135
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- Article
Delineation of the KIAA2022 mutation phenotype: Two patients with X-linked intellectual disability and distinctive features.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1349, doi. 10.1002/ajmg.a.37002
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- Publication type:
- Article
Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 389, doi. 10.1002/ajmg.a.36813
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- Publication type:
- Article
Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2873, doi. 10.1002/ajmg.a.36704
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- Publication type:
- Article
Refinement of the deletion in 8q22.2-q22.3: The minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2104, doi. 10.1002/ajmg.a.36604
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- Article
De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1550, doi. 10.1002/ajmg.a.36477
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- Article
Prenatal genetic testing for a microdeletion at chromosome 14q32.2 imprinted region leading to UPD(14)pat-like phenotype.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 264, doi. 10.1002/ajmg.a.36185
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- Article