Works matching IS 15524825 AND DT 2021 AND VI 185 AND IP 2
Results: 56
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 517, doi. 10.1002/ajmg.a.62021
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Returning negative results from large‐scale genomic screening: Experiences from the eMERGE III network.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 508, doi. 10.1002/ajmg.a.62002
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Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome (SOX5).
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 608, doi. 10.1002/ajmg.a.62001
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Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 500, doi. 10.1002/ajmg.a.62000
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First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 591, doi. 10.1002/ajmg.a.61999
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A de novo pathogenic BMP2 variant‐related phenotype with the novel finding of bicuspid aortic valve.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 575, doi. 10.1002/ajmg.a.61992
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GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 476, doi. 10.1002/ajmg.a.61996
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Familial cardio‐facio‐cutaneous syndrome: Vertical transmission of the BRAF p.G464R pathogenic variant and review of the literature.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 469, doi. 10.1002/ajmg.a.61995
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Could the MED13 mutations manifest as a Kabuki‐like syndrome?
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 584, doi. 10.1002/ajmg.a.61994
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Beta‐propeller protein–associated neurodegeneration presenting Rett‐like features: A case report and literature review.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 579, doi. 10.1002/ajmg.a.61993
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Validation and clinical performance of a combined nuclear‐mitochondrial next‐generation sequencing and copy number variant analysis panel in a Canadian population.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 486, doi. 10.1002/ajmg.a.61998
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Adult Chinese twins with Kenny–Caffey syndrome type 2: A potential age‐dependent phenotype and review of literature.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 636, doi. 10.1002/ajmg.a.61991
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Two further cases of polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome, caused by a truncating variant in STRADA.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 604, doi. 10.1002/ajmg.a.61990
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A rare cause of syndromic short stature: 3M syndrome in three families.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 461, doi. 10.1002/ajmg.a.61989
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Intracerebral hemorrhage in a neonate with an intragenic COL4A2 duplication.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 571, doi. 10.1002/ajmg.a.61988
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Dysmorphism and major anomalies are a main predictor of survival in newborns admitted to the neonatal intensive care unit in the Democratic Republic of Congo.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 453, doi. 10.1002/ajmg.a.61987
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The point‐of‐care use of a facial phenotyping tool in the genetics clinic: An ethics tête‐a‐tête.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 658, doi. 10.1002/ajmg.a.61985
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Clinical spectrum in multiple families with primary COQ<sub>10</sub> deficiency.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 440, doi. 10.1002/ajmg.a.61983
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Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused by FOXC1 and PITX2 variants.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 434, doi. 10.1002/ajmg.a.61982
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Defining dysmorphic facial features in congenital Zika syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 424, doi. 10.1002/ajmg.a.61980
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COFS type 3 in an Indian family with antenatally detected arthrogryposis.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 631, doi. 10.1002/ajmg.a.61979
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Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 566, doi. 10.1002/ajmg.a.61978
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Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 413, doi. 10.1002/ajmg.a.61977
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Empirically downgrading 10 constitutional missense variants of the NF1 gene based on co‐existing truncating variants.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 602, doi. 10.1002/ajmg.a.61976
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Self‐improving dystrophic epidermolysis bullosa: First report of clinical, molecular, and genetic characterization of five patients from Southeast Asia.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 625, doi. 10.1002/ajmg.a.61975
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Clinical charts for surveillance of growth and body proportion development in achondroplasia and examples of their use.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 401, doi. 10.1002/ajmg.a.61974
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Missing the pathological expansion in Huntington disease: de novo c.51C>G variant on the expanded allele causing intrafamilial allele dropout.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 397, doi. 10.1002/ajmg.a.61973
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Lethal Cenani Lenz syndrome in two consecutive pregnancies: Further extension of phenotype from Maldives.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 620, doi. 10.1002/ajmg.a.61971
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The importance of genetic counseling and screening for people with pathogenic SMARCE1 variants: A family study.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 561, doi. 10.1002/ajmg.a.61970
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Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 555, doi. 10.1002/ajmg.a.61969
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Age‐stratified prevalence of relevant comorbidities and etiologies for hospitalizations in Prader–Willi syndrome patients.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 600, doi. 10.1002/ajmg.a.61968
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A boy with Silver–Russell syndrome and Sotos syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 549, doi. 10.1002/ajmg.a.61967
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Pulmonary function in Williams–Beuren syndrome: Spirometric data of 22 Italian patients.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 390, doi. 10.1002/ajmg.a.61966
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Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 384, doi. 10.1002/ajmg.a.61964
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Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945–2020).
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 319, doi. 10.1002/ajmg.a.61963
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Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 544, doi. 10.1002/ajmg.a.61962
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Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 596, doi. 10.1002/ajmg.a.61961
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Poirier–Bienvenu neurodevelopmental syndrome: A report of a patient with a pathogenic variant in CSNK2B with abnormal linear growth.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 539, doi. 10.1002/ajmg.a.61960
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Genotype–phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 344, doi. 10.1002/ajmg.a.61951
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Three M syndrome 2 in two Indian patients.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 614, doi. 10.1002/ajmg.a.61949
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Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 377, doi. 10.1002/ajmg.a.61958
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Bilateral severe microphthalmia in a neonate with trisomy 8 mosaicism: A new finding.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 534, doi. 10.1002/ajmg.a.61955
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A novel homozygous frameshift mutation in the DCC gene in a Pakistani family with autosomal recessive horizontal gaze palsy with progressive scoliosis‐2 with impaired intellectual development.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 355, doi. 10.1002/ajmg.a.61952
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Witteveen–Kolk syndrome: The first patient from Turkey.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 617, doi. 10.1002/ajmg.a.61950
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Further delineation of MYO18B‐related autosomal recessive Klippel‐Feil syndrome with myopathy and facial dysmorphism.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 370, doi. 10.1002/ajmg.a.61957
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Phenotypic features in MECP2 duplication syndrome: Effects of age.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 362, doi. 10.1002/ajmg.a.61956
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Neonatal complications of Down syndrome and factors necessitating intensive care.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 336, doi. 10.1002/ajmg.a.61948
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Genetic control of tumor development in malformation syndromes.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 324, doi. 10.1002/ajmg.a.61947
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Continuing contributions of older academics.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 647, doi. 10.1002/ajmg.a.61946
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Autosomal‐dominant WFS1‐related disorder—Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 528, doi. 10.1002/ajmg.a.61945
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