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Frequency of thrombocytopenia and large platelets correlates neither with conotruncal cardiac anomalies nor immunological features in the chromosome 22q11.2 deletion syndrome.
- Published in:
- 2004
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- Publication type:
- journal article
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-25
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- Publication type:
- Article
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.
- Published in:
- 2014
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- Publication type:
- journal article
Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.
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- Journal of Clinical Medicine, 2020, v. 9, n. 5, p. 1365, doi. 10.3390/jcm9051365
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- Publication type:
- Article
Atypical phenotype of a patient with Bardet–Biedl syndrome type 4.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1869
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- Publication type:
- Article
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2017, v. 175, n. 4, p. 417, doi. 10.1002/ajmg.c.31591
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- Publication type:
- Article
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur–Chung neurodevelopmental syndrome.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63642
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- Publication type:
- Article
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2417, doi. 10.1002/ajmg.a.62347
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- Publication type:
- Article
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2847, doi. 10.1002/ajmg.a.37878
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- Publication type:
- Article
Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1008, doi. 10.1002/ajmg.a.36856
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- Publication type:
- Article
De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2594, doi. 10.1002/ajmg.a.36097
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- Publication type:
- Article
Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1786, doi. 10.1002/ajmg.a.35984
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- Publication type:
- Article
Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines).
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1406, doi. 10.1002/ajmg.a.35329
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- Publication type:
- Article
Growth Hormone Dose Modulation and Final Height in Short Children Born Small for Gestational Age: French Real-Life Data.
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- Hormone Research in Paediatrics, 2023, v. 96, n. 5, p. 495, doi. 10.1159/000530572
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- Publication type:
- Article
Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.
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- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01191-6
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- Publication type:
- Article
Effect of age at thyroid stimulating hormone normalization on postural control in children with congenital hypothyroidism.
- Published in:
- 2004
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- Publication type:
- journal article
Effect of age at thyroid stimulating hormone normalization on postural control in children with congenital hypothyroidism.
- Published in:
- Developmental Medicine & Child Neurology, 2004, v. 46, n. 2, p. 107
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- Publication type:
- Article
Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.
- Published in:
- 2008
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- Publication type:
- journal article
Noonan Syndrome: Relationships between Genotype, Growth, and Growth Factors.
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- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 1, p. 300, doi. 10.1210/jc.2005-0983
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- Publication type:
- Article
A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia.
- Published in:
- 2005
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- Publication type:
- journal article
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway.
- Published in:
- Human Genetics, 2019, v. 138, n. 7, p. 703, doi. 10.1007/s00439-019-02015-7
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- Publication type:
- Article
Clinical and molecular genetic features of ARC syndrome.
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- Human Genetics, 2006, v. 120, n. 3, p. 396, doi. 10.1007/s00439-006-0232-z
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- Publication type:
- Article
Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity.
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- Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01871
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- Publication type:
- Article
Extended spectrum of MBD5 mutations in neurodevelopmental disorders.
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- European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1457, doi. 10.1038/ejhg.2013.22
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- Publication type:
- Article
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
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- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 602, doi. 10.1038/ejhg.2012.230
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- Publication type:
- Article
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.
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- European Journal of Human Genetics, 2009, v. 17, n. 10, p. 1216, doi. 10.1038/ejhg.2009.44
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- Publication type:
- Article
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.
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- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 1014, doi. 10.1038/ejhg.2008.89
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- Publication type:
- Article
Genotype–phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the ‘association des Cytogénéticiens de langue Française’.
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- European Journal of Human Genetics, 2007, v. 15, n. 4, p. 446, doi. 10.1038/sj.ejhg.5201784
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- Publication type:
- Article
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
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- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 607, doi. 10.1038/sj.ejhg.5201372
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- Publication type:
- Article
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
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- European Journal of Human Genetics, 2004, v. 12, n. 6, p. 483, doi. 10.1038/sj.ejhg.5201177
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- Publication type:
- Article
NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects.
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- European Journal of Endocrinology, 2016, v. 175, n. 1, p. 73, doi. 10.1530/EJE-16-0056
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- Article
Genetic analysis of adults heterozygous for ALPL mutations.
- Published in:
- 2018
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- Publication type:
- journal article
Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 3, p. 472, doi. 10.1093/hmg/ddv486
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- Publication type:
- Article
Mutation of SLC9A1, encoding the major Na1/H1 exchanger, causes ataxia–deafness Lichtenstein–Knorr syndrome.
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- Human Molecular Genetics, 2015, v. 24, n. 2, p. 463, doi. 10.1093/hmg/ddu461
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- Publication type:
- Article
Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.
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- Hormone Research in Paediatrics, 2016, v. 86, n. 5, p. 309, doi. 10.1159/000448282
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- Publication type:
- Article
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 98, doi. 10.1002/ajmg.a.33785
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- Publication type:
- Article
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
- Published in:
- Human Mutation, 2016, v. 37, n. 8, p. 755, doi. 10.1002/humu.23001
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- Publication type:
- Article
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
- Published in:
- Human Mutation, 2015, v. 36, n. 9, p. 894, doi. 10.1002/humu.22824
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- Publication type:
- Article
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.
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- Human Mutation, 2010, v. 31, n. 6, p. E1506, doi. 10.1002/humu.21271
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- Publication type:
- Article
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
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- Human Mutation, 2009, v. 30, n. 11, p. 1574, doi. 10.1002/humu.21116
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- Publication type:
- Article
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 ( KAL2).
- Published in:
- Human Mutation, 2005, v. 25, n. 1, p. 98, doi. 10.1002/humu.9298
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- Publication type:
- Article
Cross‐Talk between miRNAs from the Dlk1‐Dio3 Locus and Histone Methylation to Protect Male Cerebellum from Methyl Donor Deficiency.
- Published in:
- Molecular Nutrition & Food Research, 2023, v. 67, n. 21, p. 1, doi. 10.1002/mnfr.202300040
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- Publication type:
- Article
Vitamin B<sub>12</sub> Deficiency Dysregulates m6A mRNA Methylation of Genes Involved in Neurological Functions.
- Published in:
- Molecular Nutrition & Food Research, 2021, v. 65, n. 17, p. 1, doi. 10.1002/mnfr.202100206
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- Publication type:
- Article
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.
- Published in:
- Human Mutation, 2004, v. 23, n. 4, p. 289, doi. 10.1002/humu.20017
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- Publication type:
- Article
Pubertal outcomes of children transplanted with allogeneic stem cells after myeloablative total body irradiation or busulfan: Influence of age and sex is confirmed, while a role of chronic graft‐versus‐host disease in delayed puberty onset is revealed
- Published in:
- Pediatric Transplantation, 2020, v. 24, n. 6, p. 1, doi. 10.1111/petr.13773
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- Publication type:
- Article