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Long‐term outcome of consecutive case series of congenital isolated agenesis of corpus callosum

Ultrasound in obstetrics & gynecology, 2022-10, Vol.60 (4), p.494-498

2022

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Giant congenital fibroblastic connective tissue nevus associated with vascular anomalies

Journal of cutaneous pathology, 2024-03

2024

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EP20.05: Thoracoamniotic shunting for fetal hydrothorax: fetal and maternal complications and long‐term outcomes at a single centre

Ultrasound in obstetrics & gynecology, 2022-09, Vol.60 (S1), p.173-173

2022

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OP02.01: Prenatal description of Binder‐like phenotype with different outcomes

Ultrasound in obstetrics & gynecology, 2019-10, Vol.54 (S1), p.87-88

2019

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VP25.24: Fetal ultrasound, MR imaging and MR autopsy in Cri du chat syndrome: two case reports and review of the literature

Ultrasound in obstetrics & gynecology, 2020-10, Vol.56 (S1), p.168-168

2020

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Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients

Clinical genetics, 2015-11, Vol.88 (5), p.431-440

2015

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Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations

European journal of paediatric neurology, 2020-09, Vol.28, p.110-119

2020

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A case of chronic constipation which needed a multidisciplinary approach

Digestive and liver disease, 2016-10, Vol.48, p.e248-e249

2016

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Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study

Journal of pediatric surgery, 2017-10, Vol.52 (10), p.1591-1596

2017

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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

European journal of human genetics : EJHG, 2013-10, Vol.21 (10), p.1074-1078

2013

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Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2316-2320

2013

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The role of integrated imaging techniques for prenatal prediction of phenotype in two cases of facial anomalies

Prenatal diagnosis, 2004-07, Vol.24 (7), p.508-512

2004

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Cumming syndrome with heterotaxia, campomelia and absent uterus/fallopian tubes

American journal of medical genetics, 2005-01, Vol.132A (3), p.329-330

2005

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Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

Orphanet journal of rare diseases, 2013-05, Vol.8 (1), p.75-75, Article 75

2013

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Nasopharyngeal teratoma and diaphragmatic hernia: a non random association?

Clinical dysmorphology, 2004-10, Vol.13 (4), p.255-256

2004

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Expanding CEP290 mutational spectrum in ciliopathies

American journal of medical genetics. Part A, 2009-10, Vol.149A (10), p.2173-2180

2009

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Giant congenital fibroblastic connective tissue nevus associated with vascular anomalies

Journal of cutaneous pathology, 2024

2024

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Three-dimensional Ultrasound and Genetic Syndromes

Donald School journal of ultrasound in obstetrics and gynecology, 2007-09, Vol.1 (3), p.54-59

2007

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Kawasaki's disease: description of a case

La Pediatria medica e chirurgica, 1984-05, Vol.6 (3), p.439

1984

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Humic acids trigger the weak acids stress response in maize seedlings

Chemical and biological technologies in agriculture, 2020-12, Vol.7 (1), p.1-13, Article 31

2020

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Chemical composition and bioactivity properties of size-fractions separated from a vermicompost humic acid

Chemosphere (Oxford), 2010, Vol.78 (4), p.457-466

2010

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Chemical properties of humic matter as related to induction of plant lateral roots

European journal of soil science, 2012-06, Vol.63 (3), p.315-324

2012

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Biostimulants Using Humic Substances and Plant-Growth-Promoting Bacteria: Effects on Cassava (Manihot esculentus) and Okra (Abelmoschus esculentus) Yield

Agronomy (Basel), 2023-01, Vol.13 (1), p.80

2023

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Long‐term outcome of consecutive case series of congenital isolated agenesis of corpus callosum

Giant congenital fibroblastic connective tissue nevus associated with vascular anomalies

EP20.05: Thoracoamniotic shunting for fetal hydrothorax: fetal and maternal complications and long‐term outcomes at a single centre

OP02.01: Prenatal description of Binder‐like phenotype with different outcomes

VP25.24: Fetal ultrasound, MR imaging and MR autopsy in Cri du chat syndrome: two case reports and review of the literature

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients

Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations

A case of chronic constipation which needed a multidisciplinary approach

Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

Snyder-Robinson syndrome: A novel nonsense mutation in spermine synthase and expansion of the phenotype

The role of integrated imaging techniques for prenatal prediction of phenotype in two cases of facial anomalies

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

Cumming syndrome with heterotaxia, campomelia and absent uterus/fallopian tubes

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

Nasopharyngeal teratoma and diaphragmatic hernia: a non random association?

Expanding CEP290 mutational spectrum in ciliopathies

Giant congenital fibroblastic connective tissue nevus associated with vascular anomalies

Three-dimensional Ultrasound and Genetic Syndromes

Kawasaki's disease: description of a case

Humic acids trigger the weak acids stress response in maize seedlings

Chemical composition and bioactivity properties of size-fractions separated from a vermicompost humic acid

Chemical properties of humic matter as related to induction of plant lateral roots

Biostimulants Using Humic Substances and Plant-Growth-Promoting Bacteria: Effects on Cassava (Manihot esculentus) and Okra (Abelmoschus esculentus) Yield

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