Donatella Milani's Return: A Journey Through Music, Love, and Struggles
Il Messaggero - 09 Nov 2024Donatella Milani's Return: A Journey Through Music, Love, and Struggles ...
donatella milani
Donatella Milani's Return: A Journey Through Music, Love, and Struggles ...
CATSHL syndrome, a new family and phenotypic expansion - Cannova - 2024 - Clinical Genetics
Wiley Online Library - 22 Nov 2023CATSHL syndrome, a new family and phenotypic expansion - Cannova - 2024 - Clinical Genetics ...
Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS
Frontiers - 15 Feb 2024Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS ...
Mutations of CDKN1C in IMAGe syndrome (upper part) and BWS (lower...
ResearchGate - 21 Nov 2024Mutations of CDKN1C in IMAGe syndrome (upper part) and BWS (lower... ...
The absence that makes the difference: choroidal abnormalities in Legius syndrome
Nature - 27 Jul 2017The absence that makes the difference: choroidal abnormalities in Legius syndrome ...
Comparison of first‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study - Rosina - 2024 - Molecular Genetics & Genomic Medicine
Wiley Online Library - 02 Dec 2023Comparison of first‐tier whole‐exome sequencing with a multi‐step traditional approach for diagnosing paediatric outpatients: An Italian prospective study - Rosina - 2024 - Molecular Genetics & Genomic Medicine ...
Common and specific clinical features of histone acetylation disorders:...
ResearchGate - 30 Jun 2024Common and specific clinical features of histone acetylation disorders:... ...
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Nature - 08 Jul 2020Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes ...
Fig. 3 Abdomen ultrasound scan of the patient's liver showing the...
ResearchGate - 30 Mar 2021Fig. 3 Abdomen ultrasound scan of the patient's liver showing the... ...
Insights into 6q21‐q22: Refinement of the critical region for acro‐cardio‐facial syndrome
Wiley Online Library - 31 Mar 2016Insights into 6q21‐q22: Refinement of the critical region for acro‐cardio‐facial syndrome ...
Facial appearance of the index subject at the age of 11 (left) and 18 (right)
ResearchGate - 24 Jan 2022Facial appearance of the index subject at the age of 11 (left) and 18 (right) ...
Microdeletion 2q23.3q24.1: Exploring genotype‐phenotype correlations - Milani - 2015 - Congenital Anomalies
Wiley Online Library - 01 Sep 2014Microdeletion 2q23.3q24.1: Exploring genotype‐phenotype correlations - Milani - 2015 - Congenital Anomalies ...
Unexpected phenotype in a frameshift mutation of PTCH1 - Beltrami - 2020 - Molecular Genetics & Genomic Medicine
Wiley Online Library - 02 Oct 2019Unexpected phenotype in a frameshift mutation of PTCH1 - Beltrami - 2020 - Molecular Genetics & Genomic Medicine ...
Long read genome sequencing identifies a de novo inversion on chr5...
ResearchGate - 22 Apr 2023Long read genome sequencing identifies a de novo inversion on chr5... ...
The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study
Wiley Online Library - 14 Nov 2022The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study ...
Figure 2: Hands showing tapering fingers and mild bilateral hypoplasia...
ResearchGate - 07 Feb 2018Figure 2: Hands showing tapering fingers and mild bilateral hypoplasia... ...
Figure 2: Typical hands of a RSTS patient, including enlarged first...
ResearchGate - 12 Feb 2018Figure 2: Typical hands of a RSTS patient, including enlarged first... ...
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Nature - 03 Feb 2010High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis ...
The patient’s karyotype shows an extra supernumerary chromosome.
ResearchGate - 07 Feb 2018The patient’s karyotype shows an extra supernumerary chromosome. ...