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PIK3R1 mutations in SHORT syndrome

Clinical genetics, 2014-09, Vol.86 (3), p.292-294

2014

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Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34

Clinical genetics, 2014-05, Vol.85 (5), p.498-499

2014

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Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome

Clinical genetics, 2010-06, Vol.77 (6), p.541-551

2010

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Novel SLC9A6 mutations in two families with Christianson syndrome

Clinical genetics, 2013-06, Vol.83 (6), p.596-597

2013

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Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations

Cytogenetic and genome research, 2012-06, Vol.136 (4), p.242-245

2012

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Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients

British journal of dermatology (1951), 2008-09, Vol.159 (3), p.748-751

2008

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Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

Human mutation, 2008-10, Vol.29 (10), p.1237-1246

2008

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Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation

Human genetics, 2007-05, Vol.121 (3-4), p.501-509

2007

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ABSENCE OF Yq MICRODELETIONS IN INFERTILE MEN

Archives of andrology, 2001, Vol.47 (3), p.167-171

2001

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SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

Human genetics, 2006-02, Vol.118 (6), p.708-715

2006

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Radiation-Induced Late Effects in Two Affected Individuals of the Lilo Radiation Accident

Radiation research, 2007-05, Vol.167 (5), p.615-623

2007

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Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences

American journal of medical genetics. Part A, 2006-03, Vol.140A (5), p.496-502

2006

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Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris

Clinical genetics, 2006-02, Vol.69 (2), p.189-193

2006

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STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy

Neurology, 2016-03, Vol.86 (10), p.954-962

2016

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

The Lancet (British edition), 2012-11, Vol.380 (9854), p.1674-1682

2012

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Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Human mutation, 2016-09, Vol.37 (9), p.847-864

2016

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Mutations of the aminoacyl‐tRNA‐synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

Human mutation, 2017-06, Vol.38 (6), p.621-636

2017

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De novo partial deletion in GRID2 presenting with complicated spastic paraplegia

Muscle & nerve, 2014-02, Vol.49 (2), p.289-292

2014

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Obsessive–compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome

Journal of Neural Transmission, 2022-11, Vol.129 (11), p.1387-1391

2022

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Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients

Human genetics, 2013-04, Vol.132 (4), p.461-471

2013

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A novel nonsense mutation in TUSC3 is responsible for non‐syndromic autosomal recessive mental retardation in a consanguineous Iranian family

American journal of medical genetics. Part A, 2011-08, Vol.155 (8), p.1976-1980

2011

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Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.94-102

2016

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Skeletal abnormalities are common features in Aymé‐Gripp syndrome

Clinical genetics, 2020-02, Vol.97 (2), p.362-369

2020

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Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies

American journal of medical genetics. Part A, 2015-10, Vol.167A (10), p.2406-2410

2015

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Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion

Ophthalmic genetics, 2018-10, Vol.39 (5), p.645-647

2018

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PIK3R1 mutations in SHORT syndrome

Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34

Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome

Novel SLC9A6 mutations in two families with Christianson syndrome

Parental Origin of de novo Cytogenetically Balanced Reciprocal Non-Robertsonian Translocations

Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation

ABSENCE OF Yq MICRODELETIONS IN INFERTILE MEN

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

Radiation-Induced Late Effects in Two Affected Individuals of the Lilo Radiation Accident

Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences

Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Mutations of the aminoacyl‐tRNA‐synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

De novo partial deletion in GRID2 presenting with complicated spastic paraplegia

Obsessive–compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome

Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients

A novel nonsense mutation in TUSC3 is responsible for non‐syndromic autosomal recessive mental retardation in a consanguineous Iranian family

Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?

Skeletal abnormalities are common features in Aymé‐Gripp syndrome

Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies

Posterior amorphous corneal dystrophy in a patient with 12q21.33 deletion

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