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Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

Human mutation, 2008, Vol.29 (1), p.150-158

2008

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Bone health and SATB2‐associated syndrome

Clinical genetics, 2018-03, Vol.93 (3), p.588-594

2018

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Richieri‐Costa‐Pereira syndrome: Expanding its phenotypic and genotypic spectrum

Clinical genetics, 2018-04, Vol.93 (4), p.800-811

2018

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Duplication of 7p11.2-p13, Including GRB10, in Silver-Russell Syndrome

American journal of human genetics, 2000-01, Vol.66 (1), p.36-46

2000

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Evidence That Insulin is Imprinted in the Human Yolk Sac

Diabetes (New York, N.Y.), 2001-01, Vol.50 (1), p.199-203

2001

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Lung disease associated with the IVS8 5T allele of the CFTR gene

American journal of respiratory and critical care medicine, 2000-11, Vol.162 (5), p.1919-1924

2000

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An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands

Journal of medical genetics, 1999-06, Vol.36 (6), p.457-460

1999

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Central osteosclerosis with trichothiodystrophy

Pediatric radiology, 2004-07, Vol.34 (7), p.541-546

2004

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Biallelic expression of IGFBP1 and IGFBP3, two candidate genes for the Silver-Russell syndrome

Journal of medical genetics, 2000-01, Vol.37 (1), p.65-67

2000

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Silver-Russell syndrome and ring chromosome 7

Journal of medical genetics, 2000-05, Vol.37 (5), p.380-380

2000

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Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues

European journal of human genetics : EJHG, 1998-03, Vol.6 (2), p.158-164

1998

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X-linked inheritance of Dandy-Walker variant

Clinical dysmorphology, 2002-01, Vol.11 (1), p.15-18

2002

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Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report

Clinical dysmorphology, 2003-04, Vol.12 (2), p.105-107

2003

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Genetics of silver-russell syndrome

Hormone research, 1998-01, Vol.49 (Suppl 2), p.32-36

1998

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CF-like lung disease associated with CFTR splicing variant

Respiratory research, 2001-09, Vol.2 (1), p.68541-1924, Article 68541

Haston, Christina

2001

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De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction

Diabetes (New York, N.Y.), 2020-03, Vol.69 (3), p.477-483

2020

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Defining the underlying sensory dimensions

Food quality and preference, 2000, Vol.11 (1), p.151-154

2000

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A prospective, randomized comparison of thromboelastographic coagulation profile in patients receiving lactated Ringer's solution, 6% hetastarch in a balanced-saline vehicle, or 6% hetastarch in saline during major surgery

Journal of cardiothoracic and vascular anesthesia, 2002-08, Vol.16 (4), p.441-446

2002

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A hierarchy of models for analysing sensory data

Food quality and preference, 1995, Vol.6 (4), p.309-314

1995

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Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

Bone health and SATB2‐associated syndrome

Richieri‐Costa‐Pereira syndrome: Expanding its phenotypic and genotypic spectrum

Duplication of 7p11.2-p13, Including GRB10, in Silver-Russell Syndrome

Evidence That Insulin is Imprinted in the Human Yolk Sac

Lung disease associated with the IVS8 5T allele of the CFTR gene

An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands

Central osteosclerosis with trichothiodystrophy

Biallelic expression of IGFBP1 and IGFBP3, two candidate genes for the Silver-Russell syndrome

Silver-Russell syndrome and ring chromosome 7

Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues

X-linked inheritance of Dandy-Walker variant

Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report

Genetics of silver-russell syndrome

CF-like lung disease associated with CFTR splicing variant

De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

Defining the underlying sensory dimensions

A prospective, randomized comparison of thromboelastographic coagulation profile in patients receiving lactated Ringer's solution, 6% hetastarch in a balanced-saline vehicle, or 6% hetastarch in saline during major surgery

A hierarchy of models for analysing sensory data

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