Results 31 to 40 of about 13,790,427 (112)

Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses

Prenatal Diagnosis, Volume 45, Issue 3, Page 276-286, March 2025.
Abstract Objective This study aimed to assess the detection rate of clinically significant results of prenatal exome sequencing (pES) in low‐risk pregnancies and apparently normal fetuses in non‐consanguineous couples. Methods A retrospective analysis of pES conducted at a single center from January 2020 to September 2023 was performed.
Michal Levy, Shira Lifshitz, Mirela Goldenberg‐Fumanov, Lily Bazak, Rayna Joy Goldstein, Uri Hamiel, Rachel Berger, Shlomo Lipitz, Idit Maya, Mordechai Shohat   +9 more
wiley   +1 more source

Extended phenotypic characterization of a novel Helsmoortel‐van der Aa syndrome case series

American Journal of Medical Genetics Part A, Volume 194, Issue 5, May 2024.
Abstract The neurodevelopmental disorder known as Helsmoortel‐van der Aa syndrome (HVDAS, MIM#616580) or ADNP syndrome (Orphanet, ORPHA:404448) is a multiple congenital anomaly (MCA) condition, reported as a syndrome in 2014, associated with deleterious variants in the ADNP gene (activity‐dependent neuroprotective protein; MIM*611386) in several ...
Giulia Pascolini, Giovanni Di Zenzo, Annarita Panebianco, Biagio Didona, Illana Gozes   +4 more
wiley   +1 more source

Tau, ADNP, and sex

Cytoskeleton, Volume 81, Issue 1, Page 16-23, January 2024.
Abstract With 50 years to the original discovery of Tau, I gave here my perspective, looking through the prism of activity‐dependent neuroprotective protein (ADNP), and the influence of sex. My starting point was vasoactive intestinal peptide (VIP), a regulator of ADNP. I then moved to the original discovery of ADNP and its active neuroprotective site,
Illana Gozes
wiley   +1 more source

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement

, 2018
A recent syndromic condition with craniofacial dysmorphisms, comprising congenital ocular defect and neurodevelopmental delay named Helsmoortel-Van der Aa Syndrome (HVDAS) (OMIM#615873), has been described and molecularly defined, identifying pathogenic ...
Silvia Majore, Agolini, Emanuele, Majore, Silvia, Paola Grammatico, Novelli, Antonio, Digilio, Maria Cristina, Emanuele Agolini, Antonio Novelli, Grammatico, Paola, Pascolini, Giulia, Maria Cristina Digilio, Giulia Pascolini   +11 more
core   +1 more source

23rd Congress of the European Hematology Association Stockholm, Sweden, June 14‐17, 2018

, 2018
HemaSphere, Volume 2, Issue S1, Page 1-1113, June 2018.
wiley   +1 more source

Ryhiner-Kartensammlung / 33 Nouvelle carte de l'Amerique : avec tous ses royaumes, e[s]tats, iles, ports, bayes et rivieres : dressée suivant les plus nouvelles decouvertes par les plus habiles géographes

et tout nouvellement mise en lumiere par Pierre van der Aa, marchand libraireTitel- und Massstabskartusche oben ...
Aa, Pieter van der
core   +1 more source

Ryhiner-Kartensammlung / 49 Description exacte et fidele des villes, bourgs et villages qui les ambassadeurs de Hollande ont rencontrez dans leur voyages par terre de la ville d'Osacca jusqu'a Iedo capitale du Japon : ; Voyage des ambassadeurs de Hollande par mer de Nangasacqui à Osacca

exactement decrit ; presentement publiée par P. van der Aa, marchand libraireTitelkartusche und Massstabsleisten jeweils unten rechtsOben: "Description exacte ...", unten: "Voyage des ambassadeurs ...
Aa, Pieter van der
core   +1 more source

Pläne und Ansichten / 31 Description exacte et fidele des villes, bourgs et villages qui les ambassadeurs de Hollande ont rencontrez dans leur voyages par terre de la ville d'Osacca jusqu'a Iedo capitale du Japon : ; Voyage des ambassadeurs de Hollande par mer, de Nangasacqui à Osacca

exactement decrit, presentement publiée par P. van der Aa, marchand libraireOben: "Description exacte ...", unten: "Voyage des ambassadeurs ..."Titelkartusche und Massstabsleisten jeweils unten ...
Aa, Pieter van der
core   +1 more source

Terre Sainte, Suivant les Nouvelles Observations de Messrs. de l'Academie Royale des Sciences, etc. Augmentées de Nouveau / [Pieter van der Aa]

Die Digitalisierung wurde durch die Deutsche Digitale Bibliothek im Rahmen des von der Beauftragten der Bundesregierung für Kultur und Medien (BKM) geförderten Programms NEUSTART KULTUR ermöglicht.Maßstab in grafischer Form (Lieues d'Allemagne, Lieues de
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core   +1 more source

Institutiones Iuris Publici Romano-Germanici Selectæ

STCN (Leiden, UB: 759 D 74)Vorlageform des Erscheinungsvermerks: Lugd. Batav. Apud Petrum van der Aa.
Vitriarius, Philipp Reinhard
core   +1 more source