Search Results - "Raas-Rothschild A"

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PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.

Authors: Baker, Elizabeth K. Solivio, Beulah Pode‐Shakked, Ben et al.

Source: American Journal of Medical Genetics. Part A; Nov2022, Vol. 188 Issue 11, p3262-3277, 16p

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A founder truncating variant in GDF1 causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.

Authors: Marek‐Yagel, Dina Bolkier, Yoav Barel, Ortal et al.

Source: American Journal of Medical Genetics. Part A; May2020, Vol. 182 Issue 5, p987-993, 7p

Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome).

Authors: Assia Batzir, Nurit Posey, Jennifer E. Song, Xiaofei et al.

Source: American Journal of Medical Genetics. Part A; Jan2020, Vol. 182 Issue 1, p38-52, 15p

Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population.

Authors: Raas-Rothschild, Annick Bargal, Ruth DellaPergola, Sergio et al.

Source: European Journal of Human Genetics. May99, Vol. 7 Issue 4, p496. 3p.

Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.

Authors: Allanson, Judith Smith, Amanda Hare, Heather et al.

Source: American Journal of Medical Genetics. Part A; Sep2012, Vol. 158A Issue 9, p2091-2099, 9p

The male phenotype in osteopathia striata congenita with cranial sclerosis.

Authors: Holman, Sarah K. Daniel, Phil Jenkins, Zandra A. et al.

Source: American Journal of Medical Genetics. Part A; Oct2011, Vol. 155A Issue 10, p2397-2408, 12p

Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2).

Authors: Granot-Hershkovitz, Einat Raas-Rothschild, Annick Frumkin, Ayala et al.

Source: American Journal of Medical Genetics. Part A; Aug2011, Vol. 155A Issue 8, p1825-1832, 8p

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: Report on two patients and review of the literature

Authors: Raas-Rothschild, Annick Dijkhuizen, Trijnie Sikkema-Raddatz, Birgit et al.

Source: European Journal of Medical Genetics. Mar2009, Vol. 52 Issue 2/3, p140-144. 5p.

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.

Authors: Kämpe, Anders J Costantini, Alice Levy-shraga, Yael et al.

Source: Journal of Bone & Mineral Research. Dec2017, Vol. 32 Issue 12, p2394-2404.

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Hypocarnitinemia in lysinuric protein intolerance

Authors: Korman, Stanley H. Raas-Rothschild, Annick Elpeleg, Orly et al.

Source: Molecular Genetics & Metabolism. May2002, Vol. 76 Issue 1, p81. 3p.

Gaucher disease type 2 — Homozygosity for the mutation F331S in two unrelated consanguineous Muslim Arab patients with Gaucher disease from the Gaza and Jenin regions

Authors: Baris, Hagit N. Raas-Rothschild, Annick Garty, Ben-Zion et al.

Source: Blood Cells, Molecules & Diseases. Dec2011, Vol. 47 Issue 4, p262-263. 2p.

The Time-Consuming Demands of the Practice of Medical Genetics in the Era of Advanced Genomic Testing.

Authors: Raas-Rothschild, Annick Sukenik-Halevy, Rivka David Ludman, Mark et al.

Source: European Neuropsychopharmacology. Sep2017 Supplement 3, Vol. 27, pS500-S500. 1p.

Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome.

Authors: Merdler-Rabinowicz, Rona Pode-Shakked, Ben Vivante, Asaf et al.

Source: Pediatric Nephrology. Dec2021, Vol. 36 Issue 12, p4009-4012. 4p. 1 Diagram, 1 Chart.

The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel.

Authors: Kristal, Eyal Pode-Shakked, Ben Hazan, Guy et al.

Source: Orphanet Journal of Rare Diseases. 9/8/2021, Vol. 16 Issue 1, p1-6. 6p.